Hematology

Disorders of Red blood cells


RBC Structure & Function

  • Non-nucleated, biconcave disk

    • Provides larger surface area for O2 diffusion

    • Flexible membrane

      • Allows for easier passage through capillaries

  • 48% of blood volume in men and 42% in women 

  • Transport oxygen to tissues *


Hemoglobin (Hgb)
  • Hemoglobin facilitates the transport of oxygen to tissues 

  • 95-98% of oxygen is bound to hemoglobin 

  • Hemoglobin is composed to 2 pairs of different alpha and beta polypeptide chains 

    • Globin unit (protein) + heme unit (surrounds iron atom)

    • This allows one hemoglobin molecule to carry 4 molecules of oxygen 

  • Adult Hemoglobin (HbA):

    • 2 alpha chains (α) 

    • 2 beta chains (β)

  • Fetal Hemoglobin (HbF):

    • 2 alpha chains (α) 

    • 2 gamma chains (γ)

    • Predominant fetal hemoglobin

    • Higher affinity for oxygen than HbA

  • Hgb increases by 1g/dL every 2-3 weeks

  • The rate at which it is synthesized depends on the amount of iron present 

  • Hemoglobin levels decline after middle age

    • Mean Hgb ranges from 12.4-15.3g/dL  - the lowest found among older adults 

    • Mostly due to IDA (iron deficiency anemia) & anemia of chronic disease (malignancy, CKD) 

    • RBC production starts to decline due to decreasing amount of progenitor cells with increasing age 


Hematopoiesis 

  • The production of blood cells 

  • Occurs in the liver and spleen of the fetus 

  • Occurs only in bone marrow after birth 

  • Continues throughout life, increases as a result to replace aged RBCs or destroyed circulating RBCs or in response to infection 

    • Chronic diseases = greater increase than acute conditions (ie: hemorrhage) 

    • All blood cells are generated from the progenitor cell, hematopoietic or pluripotent stem cell (HSC)


Erythropoiesis 
  • Definition: the production of red blood cells 

    • Until 5 years of age:  all bones produce RBC

    • In adults: *

      • Vertebrae 

      • Sternum

      • Ribs

      • Pelvis

  • Steps in Erythropoiesis:

    • Pluripotent stem cells

    • Proerythroblasts (committed stem cell)

    • Phase 1: Erythroblasts:  precursor cells from which RBCs are derived

    • Phase 2: Normoblasts : nucleus condenses and is reabsorbed 

    • Phase 3: Reticulocytes 

    • Erythrocytes:  hemoglobin synthesis stops  


Regulation of Erythropoiesis
  • The period from stem cell development to reticulocyte formation = 1 week

  • Reticulocyte to erythrocyte maturation = 24-48 hours

    • Remain in bone marrow for 24 hours, then released into circulation 

  • Reticulocytes make up 1% of RBCs 

  • The total amount of circulating erythrocytes in healthy individuals remains constant 

  • Hypoxia (low oxygen) stimulates the kidneys to increase the production of erythropoietin (EPO)  

    • EPO goes to bone marrow  

    • binds to EPO receptors on proerythroblasts  

    • increased production of RBCs

  • Nutritional requirements for Erythropoiesis 

    • Development of erythrocytes and hemoglobin synthesis is dependent on essential proteins, vitamins and minerals

      • If lacking, erythrocyte production will slow down, leading to anemia  

    • Erythropoiesis stops in the absence of vitamins such as: B12, B5, folate, niacin, Vitamin C, Vitamin E  =  Anemia 

Red Cell destruction 
  • RBC life span: 120 days (4months)

    • Removed from circulation in the spleen 

  • As RBC ages, changes occur, making the RBC more fragile:

    • Metabolic, enzyme & ATP activity decreases

    • Membrane lipids decrease and membrane becomes more fragile  red cell to self destruct as it passes through narrow spaces in circulation and spleen 

  • Rate of destruction (1% per day) = rate of production 

    • Except in diseases like hemolytic anemia – where the cell’s life span is shorter 

  • Facilitated by phagocytes (found in spleen, liver, bone marrow, lymph nodes) 

    • Phagocytes ingest and destroy defective red cells -> amino acids and iron are salvaged and reused 

      • Heme: converted to bilirubin -> attached to plasma proteins for transport  removed from blood by liver and excreted in the bile 

      • Excessive red blood cell destruction -> increased bilirubin production -> unconjugated bilirubin accumulation = jaundice 

The Iron Cycle and erythropoiesis 
  • 25mg of iron is needed daily for erythropoiesis  

    • 1-2mg is dietary

    • Remaining iron is obtained from recycling of erythrocytes 

  • 67 % of iron is bound to heme and muscle cells (myoglobin)

  • 30% of iron is stored in mononuclear phagocytes (macrophages) and the liver

  • 3% of iron is lost daily in urine, sweat or bile

  • Recycled iron can bind again to transferrin or be stored as ferritin or hemosiderin 


The Composition of Blood

  • Plasma:  55%

    • 91% water

    • 7% proteins 

      • Albumin – regulates movement of water/solutes; maintains oncotic pressure 

      • Fibrinogen – clotting 

    • 2%:  ions, nutrients, waste products, and gases

      • Carries nutrients/ions to maintain acid-base balance 

  • Formed elements: 45% 

    • Red blood cells – measured by hematocrit

  • Buffy Coat  

    • White blood cells

    • Platelets 

Normal Values & RBC INDICES
  • RBC Indices

    • Red Cell Count 

    • MCV (Mean corpuscular volume): Reflects the volume or size of the RBCs

    • MCHC (Mean corpuscular hemoglobin concentration): Concentration of hemoglobin in each cell (amt of hgb each cell)

      • Hemoglobin is responsible for the color of the cell 

    • MCH (Mean cell hemoglobin) : Refers to mass of the red cell

      • Less useful in classifying anemias 


Normal Values

Hgb

Hematocrit (%)

RBC in 10 u/L

Reticulocyte count

Men

14-16.5

40-50

4.2-5.4

1%

Women

12-15

37-47

3.6-5.0

1%


MCV (size)

MCHC (amt hbg/color)

MCH (mass of RBC)

85-100

31-35

27-34


  • RBC Indices – putting it all together 

    • Size  (MCV)

      • Normocytic (normal) 

      • Macrocytic (large) – high MCV

      • Microcytic (small) – low MCV

    • Color (MCHC)

      • Normochromic 

      • Hypochromic (pale) – low MCHC

    • The naming convention is based on size and color.  For example:

      • Macrocytic, normochromic 

      • Microcytic, hypochromic

      • Normocytic, normochromic

  • Cell Shape and Size 

    • Anisocytosis – abnormal variation in cell size 

    • Quantifies RDW (red cell distribution width) 

    • Poikilocytosis – abnormal variation in cell shape 

      • Flat, elongated, teardrop-shaped, crescent-shaped, sickle-shaped, or other abnormal features 

Complete Blood Count -- “CBC”
  • Includes the ‘formed elements’ of blood 

    • RBC/Hgb/Hct/red cell indices/reticulocytes  

    • WBC

    • Platelets 

  • “Differential”   “CBC w/ diff”

    • Gives a percentage of each different type of WBC:

      • Neutrophils

      • Lymphocytes

      • Monocytes

      • Eosinophils

      • Basophils  

    • “ Left Shift”

      • Increase in number of immature WBC or ‘bands’

      • Typically signifies infection until proven otherwise 

      • Bone marrow is prematurely releasing WBC into bloodstream 


Anemia: Overview  

  • Definition: Decrease in the number of red blood cells, hemoglobin or both, leading to decreased oxygenation of tissues 

  • It can develop due to: (this is also how we classify the anemias)

    • Excessive loss of RBCs  (bleeding/hemorrhaging)

    • Inadequate RBC production (bone marrow failure) 

    • Increased RBC destruction (hemolysis) 

    • Defective red blood cells 

  • It is not a disease 

  • Clinical Presentation – Symptoms they all have in common

    • Fatigue

    • Weakness

    • Dyspnea

    • Angina

    • Headache 

    • Lightheadedness

    • Dim vision 

    • Pallor of skin, mucous membranes, conjunctiva, nail beds

    • Tachycardia

    • Palpitations 

    • Diffuse bone or sternal tenderness

      • Due to accelerated erythropoiesis 

Types of Anemia

  • Excessive loss of RBCs

    • Blood loss anemia

  • Increased RBC destruction / defective RBCs

    • Hemolytic anemia 

    • Hereditary Spherocytosis 

    • G6PD Deficiency 

    • Autoimmune 

    • Sickle cell anemia 

    • Thalassemia 

  • Inadequate RBC production

    • Iron Deficiency Anemia 

    • Megaloblastic Anemia

    • Vitamin B12 Deficiency/Pernicious 

    • Folic Acid Deficiency 

    • Aplastic Anemia 

    • Anemia of Chronic Disease


Excessive loss of RBCs
Blood loss anemia
  • Results from excess loss of RBC

  • Acute or chronic

  • CBC: normocytic and normochromic

  • Acute bloos loss anemia

    • Loss of intravascular volume

    • Patho:

      • Blood loss results in hypoxia of tissues and cells

      • Stimulates EPO

      • Proliferation of erythroid stem cells

      • Reticulocyte production

    • Etiology

      • Trauma

      • GI hemorrhage

      • Dissection

      • DIC

      • Splenic rupture

      • SAH

    • Clinical manifestations

      • Signs of vascular instability occurs when 10-15% of total blood olume is lost

        • Can lead to circulatory shock and collapse

      • Hemoglobin and hematocrit do not reflect volume of blood lost in acute hemorhage

      • Hypotension and decreased organ perfusion are main concerns

      • (+) orthostatic hypotension, tachycardia

      • Hypovolemic shock (lose over 40% of volume)

        • Confusion

        • SOB

        • Diaphoresis

        • Hypotension

        • Tachycardia 

    • Treatment: 

      • Stop the bleeding, volume replacement, transfusion!

      • Iron supplements

        • Because iron is recycled and lost sm blood, need to build the store up again

      • Hemoglobin will take 6-8 weeks to return to baseline

    •   Complications: 

      • MI, CVA, death, organ damage/failure 

  •  Chronic blood loss anemia 

    • Occurs when the blood loss is greater than the replacement capacity by the bone marrow 

    • Commonly caused by GI bleeding and menstrual disorders 

    • Does not affect intravascular volume  (blood loss is slow) 

      • Often leads to IDA 

    • May not show clinical symptoms until more than 50% of red cell mass is lost / Hgb < 8g/dL 


Increased RBC destruction / defective RBCs
Hemolytic Anemia 
  • Definition: Premature and accelerated destruction of red blood cells from the bloodstream before they can be replaced 

  • CBC: Mostly all normocytic, normochromic 

  • Pathophysiology: 

    • RBC destruction 

      • Intravascular – due to mechanical (karate or marathon running)/toxic injuries (clostridial sepsis, snake venom, lead poisoning), complement fixation (ie: transfusion reactions)  hemoglobinuria, hemosiderinuria, jaundice* 

        • Initiated by RBC destruction in circulation by complement or antibodies 

      • Extravascular – due to cells becoming less deformable  sequestration & phagocytosis by macrophages (spleen, bone marrow and liver)   jaundice* 

        • Initiated by age-related changes in the RBC surface that makes them more rigid, less able to change shape

    • Retention of iron and other products of hemoglobin destruction

    • Increase in erythropoiesis 

  •  Congenital vs Acquired

    • Congenital

      • Result from intrinsic defects in erythrocytes, including the cell membrane

        • Ie: hereditary spherocytosis, paroxysmal nocturnal hemoglobinuria

      • Defect in enzymatic pathways

        • Ie: G6PD deficiency 

      • Abnormality in hemoglobin synthesis

        • Ie: thalassemia, sickle cell anemia 

    • Acquired

      • Immunologic or allergic in nature – autoantibodies are produced in response to erythrocyte antigens -> RBC destruction

      • Increased shear stress in narrow vessels (ie: DIC, damage caused by cardiac valve prosthesis)

  • Clinical Manifestations: 

    • RBC life span is shortened, making the bone marrow hyperactive -> Reticulocytosis

      • Bone marrow can increase red cell production up to 8x its normal rate 

    • Severity of symptoms is related to degree of hemolysis and anemia and efficiency of compensatory erythropoiesis 

    • Hemoglobinuria 

    • Hemosiderinuria

    • Jaundice*

    • Splenomegaly in congenital cases 

  • Diagnosis

    • CBC: Mostly all normocytic, normochromic 

    • Hemolysis labs:

      • Reticulocytosis > 2%

      • Schistocytes on peripheral smear 

      • ↓ haptoglobin < 30

      • ↑ indirect bilirubin 2/2 heme breakdown

      • ↑ LDH


Hereditary Spherocytosis

  • A type of hemolytic anemia

  • Affects 1:2000 of NE European descent 

  • Etiology:  

    • Inherited molecular defect in one or more proteins of the red cell membrane 

  • Pathophysiology: 

    • Molecular defect leads to the loss of lipid bilayer of the RBC  spherical/circular rather than biconcave and get stuck in splenic fenestration and lyse 

  • Clinical manifestations: 

    • Hemolytic anemia, jaundice, splenomegaly and bilirubin gallstones

  • Diagnosis: normocytic anemia, hemolysis on labs

    • Hyperchromic cells (high MCHC)

    • Spherocytes on peripheral smear

    • Osmotic fragility test – most sensitive test for diagnosis  

  • Treatment: blood transfusion, splenectomy

  • Complications: aplastic crisis (parvovirus b19) 


G6PD Deficiency
Glucose-6-phosphate dehydrogenase deficiency 

  • X-linked recessive disorder 

  • Most common inherited enzyme defect resulting in hemolytic anemia 

  • Most commonly occurs in African and Mediterranean groups & males 

  • Enzyme defect makes RBC more vulnerable to oxidants and causes direct oxidation of hemoglobin to methemoglobin (cannot transport O2) -> hemoglobin denaturing -> Heinz bodies *

  • Etiology: 

    • Drugs – Primaquine, sulfonamides, ASA, nitrofurantoin 

    • Infection – Hep A/B, typhoid fever, pneumonia 

    • Foods – “fava beans” * peanuts, peas, artificial food dyes 

  • Clinical manifestations: 

    • Most people remain clinically asymptomatic throughout life 

    • Occurs 2-3 days after trigger

    • Hemoglobinemia 

    • Hemoglobinuria 

    • Jaundice 

    • Malaise, weakness, abdominal/lumbar pain 

    • Not associated with chronic hemolytic anemia in African Americans because the enzyme defect is only mildly expressed 

  • Diagnosis

    •  CBC is normal between hemolytic episodes

    •  During episodes: 

      • Hemolysis lab findings 

      • Peripheral smear: bite cells, bizarre poikilocytes

    • Quantitative UV spectrophotometric assay (gold standard) or rapid spot test for G6PD

  • Treatment 

    •  Avoid offending agents

    • Transfuse as needed

    •  Folic acid supplements if anemia is not severe 


Autoimmune Hemolytic anemia 

  • The immune system recognizes RBCs as foreign

  • Production of autoantibody  adheres to the RBC membrane surface antigen, leading to cell destruction and phagocytosis 

  • Etiology

    • Idiopathic (50%)

    • SLE

    • Lymphomas

    • Chronic lymphocytic leukemia 

    • Drugs (PCN, Fludarabine, Ceftriaxone, Piperacillin-Tazobactam)

  • Clinical Manifestations

    •  Triad of symptoms:

      • Abrupt and dramatic onset (ie: Hgb 4 g/dL) 

      • Splenomegaly

      • Jaundice 

  • Diagnosis

    •  CBC: Normocytic anemia

    •  Direct Coombs test (DAT) – test of choice

      •  Confirms presence of antibodies attached to RBCs

      •  98% sensitive for autoimmune hemolytic anemia 

  • Treatment

    •  Hold transfusion unless blood threatening anemia 

    •  Prednisone 1mg/kg – first line

    • Rituximab (100mg/week x 4) – used with prednisone

    • Second line treatment – azathioprine, cyclophosphamide, cyclosporine 

    • Splenectomy – removes major site of hemolysis, but not a cure 

    • Stem cell transplant 


Sickle Cell Anemia

  • Sickle Cell Disease vs Trait 

    • Both conditions are inherited disorders characterized by a recessive inheritance pattern of the hemoglobin S (HbS) gene  

    • Sickle cell disease: Homozygous with 2 HbS genes 

    • Sickle cell trait: Heterozygous with 1 HbS gene 

  • Etiology:  A point mutation in beta chains of the Hb molecule leads to abnormal structure of HbS

    • Mutation changes the 6th amino acid from glutamic acid to valine* 

  • Pathophysiology: 

    • Sickle cell disease: HbS becomes sickled in times of physiologic stress, when deoxygenated or at low O2 tension

    • Sickled cells lose the pliability needed to traverse through capillaries

      • Their outer membranes become “sticky” and adhere to endothelial venules

      • Above produces vasoocclusion and hemolytic anemia as RBCs occlude capillaries and venules, leading to tissue ischemia, acute pain, and end-organ damage 

    • Cell may return to normal shape with oxygenation in the lungs 

    • With repeated episodes of deoxygenation, the cells will remain permanently sickled 

    • Physiologic stressors: Hypoxia, dehydration, acidosis, extreme temperatures, stress, menses

  • Clinical Manifestations: 

    • Sickle cell disease (homozygous): 

      • Onset – first year of life as Hgb F levels fall 

      • Severe hemolytic anemia

      • Hyperbilirubinemia – from hemoglobin breakdown -> jaundice 

      • Vaso-occlusive crises  - m/c presentation 

        • Acute pain, fever, tachycardia and anxiety 

        • Can develop anywhere in the body and last from few hours – 2 weeks

    • Sickle cell trait: less HbS = less tendency to sickle = asymptomatic 

    • Vaso-occlusive Crises/Sickle Cell Crisis 

      • Acute chest syndrome*

        • Secondary to vessel occlusion in lungs

        • Leading cause of death in people with sickle cell disease 

        • Characterized by sudden onset of chest pain; cough and SOB may develop as a result of pulmonary infiltrates and respiratory insufficiency 

      • Bone Crises*: due to infarcts in bone marrow  - long bones, back, pelvis, chest, abdomen

      • Dactylitis – pain and swelling b/l hands and feet 

      • Retinal vessel occlusion – hemorrhage, neovascularization, detachment

      • TIA/CVA 

      • Renal necrosis – renal failure 

      • Splenic injury -> asplenia -> susceptibility to life-threatening infections caused by encapsulated organisms

        • ie: Streptococcus pneumoniae, Haemophilus influenzae type b, and Klebsiella

  • Diagnosis

    • Normocytic anemia with hemolytic findings 

    •  Peripheral smear: 5-50% sickled cells

    • Hematocrit = 15-30%, significant reticulocytosis 

    •  Hemoglobin electrophoresis confirms diagnosis 

      •  > 50% of Hgb will be Hgb S

    •  All newborns are screened in the US 

  • Treatment

    • No known cure

    • Prevent sickling episodes, symptomatic treatment, and treating complications

    • Avoidance of situations that precipitate sickling episodes

      • Infection

      • Cold exposure

      • Severe physical exertion

      • Acidosis 

      • Dehydration  

    • Symptomatic treatment – IVF, rest, pain control, oxygen

    • Blood transfusions

    • Daily lifelong hydroxyurea 10-30mg/kg per day with or without L-glutamine

      • Increases fetal Hgb and has beneficial effects on RBC hydration, vascular wall adherence and retic/granulocyte suppression  

    •  Bone marrow transplant  - definitive cure, but safe only in children 

    • Prophylactic exchange transfusions

    • Folic acid 1mg daily 

    • Low dose penicillin prophylaxis in children <5 years old or those with recurrent invasive pneumococcal infections 

      • Functional asplenia occurs in 94% of patients by age 5 due to vaso-occlusion within the spleen, making pt predisposed to removal of encapsulated organisms (ie: streptococcus pneumoniae)

      • More susceptible to infection

    • Complications

      •  Cholelithiasis 

      •  Splenomegaly

      •  Chronic lower extremity ulcers 

      •  Infection with encapsulated organisms

      •  AVN

      • Priapism

    • Prognosis: 

      •  Life expectancy between 40-50 years old; increasing due to newer treatments and monitoring 


Thalassemias – Alpha & BEta

  • 2 types – Alpha and Beta Thalassemia 

  • Group of inherited disorders of hemoglobin synthesis decreased synthesis of either the alpha or beta globin chains of HbA 

  • Decreased synthesis of affected chain AND we have continued production and accumulation of the unaffected globin chain 

  • Individuals may have the heterozygous (mild form of ds) or homozygous trait (severe form of ds) 

  • Microcytic, hypochromic anemia OR hemolytic anemia 

  • Both types are common in African Americans

    • Alpha thalassemia = more common in Southeast Asian or Chinese populations

    • Beta thalassemia = more common in African or Mediterranean populations 


 Alpha Thalassemia

  • Most common in Asian population 

  • Caused by deficient synthesis of the alpha chain due to a gene deletion 

    • Synthesis of alpha chain is controlled by 4 genes 

      • Silent carrier: 1deletion of alpha globin gene --  asymptomatic 

      • Thalassemia minor/trait: 2 deletions of alpha globin gene -- mild hemolytic anemic

      • Hemoglobin H disease: 3 deletions of alpha globin gene -- accumulation of unstable beta chain; will see chronic moderate hemolytic anemia 

        • Beta chains are more soluble than alpha chains  accumulation is less toxic to RBCs

      • Hydrops fetalis: 4 gene deletion of alpha globin gene -- Most severe form; occurs in infants in whom all 4 alpha globin genes are deleted  

        • Incompatible with life, only hemoglobin B is present on electrophoresis 

Beta Thalassemia 

  • Referred to as Cooley anemia or Mediterranean anemia 

  • Most common in Mediterranean populations of Italy, Greece

  • Etiology: 

    • Caused by deficient synthesis of the beta chain

  • Pathophysiology: 

    • Alpha chains are denatured -> Heinz Bodies* -> impair DNA synthesis -> damage of RBC membrane 

  • Types:

    • β Thalassemia minor/trait (Heterozygous) – 1 gene mutation

    • β Thalassemia major (Homozygous) – 2 gene mutations 

  • β Thalassemia minor/trait

    •  Do not develop severe form of disease

    •  CBC: Hypochromic (bc less hbg), microcytic , no hemolysis (as anemia is minimal)

  • β Thalassemia major (AKA Cooley’s anemia): 

    •  ineffective hematopoiesis and hemolysis -> erythropoietin secretion and hyperplasia in bone marrow 

    • Clinical Manifestations:

      • Severe anemia requiring frequent transfusions 

      • Hemosiderosis

      • Growth delay 

      • Thinning of cortical bone -> fracture 

      • Formation of new bone in the maxilla and frontal bones of the face

        • Frontal bossing

      • Splenomegaly, Hepatomegaly 

    • Treatment:

      • Regular blood transfusions, iron chelation therapy, stem cell transplant (only curative treatment)

    • Complications:

      • Iron overload -> cardiac hepatic, and endocrine diseases = common causes of morbidity/mortality 

  • Diagnosis

    •  MCV < 60-70: microcytic

    •  Iron studies and ferritin within normal limits 

    •  Marked anemia – hemoglobin 3-6 g/dL 

    • Target cells, chronic hemolysis 



Inadequate RBC production


Iron Deficiency Anemia
  • Definition: decreased hemoglobin synthesis as a result of iron loss from dietary sources, through bleeding or increased demands 

  • RBC breakdown leads to release of iron, which is reused in production of new RBCs

  • CBC:  Microcytic, Hypochromic 

    • Poikilocytosis (irregular shape)

    • Anisocytosis (irregular size) 

    • High RDW*: variation of volume and size

  • Etiology:

    • Dietary deficiency – not common in developed countries 

      • Average western diet = 20mg of daily iron 

      • Daily iron requirement  -  Men: 7-10mg  l  Women: 7-20mg 

      • Bioavailability - Only 10-15% of ingested iron is absorbed 

    • Chronic blood loss – most common cause in Western world

      • Women of childbearing age

        • Menstrual bleeding

      • Men/Post-menopausal women:

        • GI bleeding, peptic ulcer, hemorrhoids, esophageal varices, cirrhosis, cancer

      • Blood loss of 2-4mL/day is enough to cause IDA  

    • Impaired absorption 

      • Celiac disease, chronic diarrhea 

    • Increased requirement 

    • Eating disorders, surgical procedures, H.Pylori 

  • Pathophysiology

    • Demand for iron exceeds the supply 

  1. Iron stores are depleted, erythropoiesis occurs normally, Hgb remains normal 

  2. Iron transportation to the bone marrow is diminished, erythropoiesis produces iron-deficient Hgb

  3. Hemoglobin-deficient cells enter the circulation to replace the normal aged RBCs 

  • Excessive blood loss and inadequate dietary intake deplete iron stores and lead to reduction in hemoglobin synthesis 

  • With metabolic or functional iron deficiency, metabolic disorders  insufficient iron delivery or impaired use of iron within the bone marrow  inadequate heme synthesis 

  • Iron regulates immune function

  • Any inflammation or acute phase response within the body can result in anemia 

  • Clinical Manifestations

    • Fatigue, palpitations, dyspnea, angina, tachycardia 

    • Pica syndrome

    • Koilonychia* (spoon shaped nail)

    • Smooth tongue/glossitis   

    • Angular stomatitis 

  • Diagnosis  

    • CBC:  Microcytic, Hypochromic 

    • Poikilocytosis (irregular shape)

    • Anisocytosis (irregular size) 

    • High RDW* (variable volume and size)

    • Elevated TIBC

  • Wants to bind to iron

  • Low iron < 30 ng/mL

  • Low ferritin - <30-almost always indicates IDA

  • Decreased reticulocytes < 1%

  • Bc cant make RBC without iron

  • Treatment

    •  Treat the underlying cause

    • Work up for occult blood loss 

    •  Ferrous sulfate 325mg PO QOD x 2-6mo

    •  Ferrous fumarate 305mg PO QOD x 2-6mo 

      • Monitor Hgb the first 4 weeks for response

      • Continue for 3 months after normalization of Hgb

    •  Parenteral iron

      • Consider when oral iron is contraindicated, ineffective or not tolerated 


Megaloblastic Anemia [MCV >100]
Vitamin B12 and Folic Acid Deficiency 
  • Definition:  

    • Results from impaired DNA synthesis ->  large RBC

    • RNA production proceeds normally 

    • The cells have slow maturing nuclei, but have normal maturing cytoplasm 

      • “Nuclear-cytoplasmic asynchrony” produces megaloblastic changes in the bone marrow * 

      • Defective erythrocytes die prematurely -> anemia 

      • Secondary to a lack of Vitamin B12 or Folate

  • CBC: Macrocytic, Normochromic  

Vitamin b12 Deficiency Anemia
Megaloblastic Anemia [MCV >100]

  • Definition:  Megaloblastic anemia secondary to a lack of Vitamin B12

  • Pathogenesis:

    • B12 is released from animal protein -> stomach -> binds to intrinsic factor* (secreted by gastric parietal cells) -> ileum -> binds to epithelial cells -> separates and is transported into circulation 

      • Intrinsic factor protects Vitamin B12 from digestion by intestinal enzymes 

  • Etiology

    • Inadequate absorption = mc cause*

      • Lack of intrinsic factor  (Pernicious anemia)* 

      • Bacterial overgrowth

      • Parasites

      • Decreased acid secretion/ long-term use of PPIs

      • Celiac disease, ileitis 

      • IBD 

      • Gastric or bariatric surgery 

      • Nitrous oxide = rapid depletion of B12 

    • Inadequate intake – rare, mostly in strict vegans/vegetarians  

    • Decreased utilization  

      • Enzyme deficiencies

      • Transport protein abnormality

  • Vitamin b12 Deficiency – Pernicious Anemia 

    • Specific form of megaloblastic anemia that leads to Vitamin B12 deficiency as a result of atrophic gastritis and lack of intrinsic factor

    • Intrinsic factor is secreted by gastric parietal cells

    • Impaired intrinsic factor etiology:

      • Autoimmune destruction of gastric mucosa 

      • Gastrectomy 

      • Congenital disease 

    • Lack of gastric mucosa -> loss of parietal cells 

    • Basically pernicious anemia is the autoimmune destruction of parietal cells so less intrinsic factor-> less B12 absorbed

  • Clinical Manifestations

    • Mild jaundice 

    • Glossitis 

    • Neurologic changes* irreversible!

      • Symmetric paresthesia of feet, fingers

      • Loss of vibratory and position sense

      • Gait abnormalities 

      • Spastic ataxia 

      • Confusion, dementia neuropsychiatric changes

  • Diagnosis

    •  CBC- Macrocytic anemia (MCV 110-140) 

    •  Megaloblastic changes to RBC’s 

    • Low serum vitamin B12 level < 200 pg/mL

    •  Elevated serum methylmalonic acid (MMA) & homocysteine level

    •  Hypersegmented neutrophils

    •  Reticulocytes < 1%

    •  If pernicious anemia: presence of anti-intrinsic factor autoantibodies 

  • Treatment

    •  Oral or SL therapy

      •  Vitamin B12 1000 mcg daily

    •  Parenteral therapy  1000 mcg IM or deep SC

      • Always indicated if patient has neurologic symptoms 

    •  Pernicious anemia: Parenteral B12 once per week x 4 weeks, then monthly indefinitely 

    •  GI related: Parenteral B12 monthly indefinitely or until issue resolved


Folic Acid Deficiency Anemia
Megaloblastic Anemia [MCV >100]

  • Definition:  

    • Megaloblastic anemia secondary to a lack of folic acid 

  • Pathogenesis: 

    •  Folates: coenzymes required in the synthesis of thymine and purines and the conversion of homocysteine to methionine

      • Deficiency in thymine affects cells undergoing rapid division (ie: erythropoiesis) 

    • Readily absorbed from the small intestine -> stored in liver

    • Poorly stored*

      • Deficiency develops in weeks to months * 

    • Found in green, leafy vegetables/ lost in cooking 

    • Flour and grain products/cereal 

      • Required to have folic acid supplementation

  • Etiology 

    • Dietary deficiency = most common 

      • Found in green, leafy vegetables/ lost in cooking 

      • Flour and grain products/cereal  - required to have folic acid supplementation

      • Daily requirement: 50-200mcg/day

    • Alcohol use 

    • Celiac disease 

    • Neoplastic disease 

    • Methotrexate 

    • Pregnancy-> neural tube defects 

  • Clinical Manifestations

    • No neurologic changes*  

  • Diagnosis

    • Megaloblastic, macrocytic anemia 

    • Red blood cell folic acid level < 150 ng/mL (diagnostic)

    • Normal serum B12 level  

    • Normal MMA

    • Elevated homocysteine 

  • Treatment

    • Folic Acid 5-15mg PO Daily x 4 months 

    • All women of childbearing age with male partners should take 0.4mg to maintain adequate serum levels in event of pregnancy 

    • Will see total correction of anemia in 2-3 months  

 

Aplastic Anemia 
  • Definition: Hematopoietic failure or bone marrow aplasia -> pancytopenia: reduction of all 3 cell lines (RBC, WBC and platelets)

  • Anemia results from failure of the marrow to replace the destroyed red cells

  • CBC: Normocytic, normochromic (macrocytic in association with stress erythropoiesis) 

  • Pathophysiology:

    • Characteristic lesion – hypocellular bone marrow replaced with fat

    • Pathogenesis is uncertain

    • Thought to be related to 

      • Extrinsic: immune-mediated suppression of bone marrow progenitor cells

      • Intrinsic: abnormality of stem cells 

    • Those with a genetic defect as an etiology may have an abnormality in human leukocyte antigens( HLA) or inhibitory cytokines 

    • Cytotoxic T cells may be the culprit behind aplastic crisis in those with an autoimmune process as underlying etiology

  • Etiology:

    • High doses of radiation, chemotherapy -> bone marrow suppression  -> pancytopenia 

    • Chemical agents: alkylating agents, antimetabolites, arsenicals 

    • Toxins: benzene, chloramphenicol 

    • Infections:  viral hepatitis, CMV, Epstein-Barr, HIV, Herpes Zoster 

    • Inherited:  Fanconi anemia, telomerase defects 

    • Acquired: paroxsymal nocturnal hemoglonbinuria (PNH) 

    • Idiopathic  -  75% 

  • Clinical Manifestations: 

    • Fatigue, weakness, pallor

    • Petechiae, purpura*  

    • Epistaxis, bleeding gums, GI bleeding 

    • Increased susceptibility to infection

      • Bc WBC count is also low

    • Rapidly progressing: hypoxemia, pallor, fever, dyspnea, signs of bleeding 

    • Slow onset: weakness, fatigue 

    • 50% of cases progress rapidly

    • Highest risk of death is from infection of bleeding 

  • Diagnosis

    •  Hallmark lab finding: Pancytopenia

    •  Varying degrees of anemia, leukopenia, thrombocytopenia

    •  Reticulocytopenia (reticulocyte count < 1) 

    •  Bone marrow biopsy: 

      • Bone marrow aspiration and bx are needed to make the diagnosis

      • Hypocellular, fatty biopsy; no fibrosis or cancerous cells 

    • Treatment

      •  Depends on severity, age, functional status- hematology referral required

      • Mild-Moderate: supportive care, growth factors, transfusions

      • Severe:

        •  Age < 40: Allogeneic stem cell transplant 

        •  Age > 40: Immunosuppression w/ equine antithymocyte globulin (ATG) plus cyclosporine and methylprednisolone 

          •  Kills T lymphocytes attacking bone marrow stem cells 

          •  Induces hematologic recovery in 60-70% or patients 




Anemia of Chronic Disease
  • Anemia resulting from decreased erythropoiesis and impaired iron utilization due to chronic disease states or inflammation 

  • Decreased numbers of erythrocytes fail to increase erythropoiesis 

  • CBC: normocytic, normochromic -> microcytic, hypochromic (overtime)

  •  Pathophysiology:

    • Decreased erythrocyte life span

    • Suppressed production of erythropoietin

    • Ineffective bone marrow erythroid progenitor response to erythropoietin

    • Altered iron metabolism and iron sequestration by macrophages 

    • Occurs as a result of cytokine activation due to chronic inflammation 

  • Diagnosis

    • Normal MCV

    • Decreased reticulocytes 

    • Ferritin-normal or increased 

  • Treatment

    • If anemia is severe or affecting QOL:

      • PRBC transfusion

        • If Hgb < 8

      • Parenteral recombinant erythropoietin (EPO)

        • If Hgb < 10 and renal insufficiency  (ie: HD) 


Anemias due to Iron Disorders
Sideroblastic anemia 
  •  Decreased hemoglobin synthesis due to an impaired ability to incorporate iron into protoporyphyrin IX, leading to anemia, despite the presence of adequate or increased amounts of iron. Basically iron cant attach to heme.

  • Etiology – Acquired of Congenital 

    •  Acquired

      •  Typically acquired and a subtype of myelodysplastic syndrome (MDS) 

      •  Alcoholism, lead poisoning, copper deficiency, medications (isoniazid, chloramphenicol) 

    •  Congenital

      •  Caused by one of many X-linked or autosomal mutations 

  • Diagnosis

    •  CBC

      • Microcytic in congenital causes

      • Macrocytic in acquired causes 

      • Increased RDW (wide variation in size)

      • Serum iron, ferritin and transferrin are increased 

    •  Peripheral smear: 

      • Dimorphic RBCs (variation of normocytic and microcytic, hence the high RDW) 

      • Ringed sideroblasts *

    •  Bone marrow aspiration 

      • Shows erythroid hyperplasia

      • Ringed sideroblasts with Prussian Blue staining 

  • Treatment

    •  Stop causative agents 

    •  Blood transfusions as needed 

    •  Pyridoxine (20-200mg/day) 

    •  Chelation or phlebotomy for iron overload 

Hemochromatosis 
  • Definition: disorder of iron metabolism, causing abnormal iron build up in organs, leading to organ toxicity 

  • Autosomal recessive disorder 

  • 1 in 200-500 people 

  • 2-3 times more common in men than women 

  • Most common in Northern Europeans

  • Etiology/Pathophysiology: Classified either as primary or secondary 

    • Primary or hereditary hemochromatosis (HH) 

      • Mutation of 1 of 5 different gene mutation: HFE,* HJV, TFR2, SLC40A1, HAMP

        • HFE gene is responsible for majority of adult form of HH 

        • HFE protein regulates production of hepcidin (“master” iron regulator) 

        • Results in an increase in expression of an iron transport protein -> increased intestinal iron absorption -> iron overload and end organ damage 

    • Secondary hemochromatosis 

      • Caused by anemias of inefficient erythropoiesis, dietary overload or treatment of diseases that require repeated blood transfusions or iron injections

      • Blood transfusions -> RBC injury -> release of iron from heme -> accumulation of iron in body (liver, heart, skin) 

  • Clinical Presentation:

    • Hereditary (75%) – asymptomatic

    • Fatigue

    • Impotence

    • Arthralgias 

    • Hepatomegaly* 

      • Liver stores iron

    • Skin pigmentation changes/bronzing*

      • Too much iron gives bronze color

    • Arthritis* 

      • Bc of iron in joints

  • Diagnosis

    • Elevations in serum iron, transferrin and ferritin levels 

    • Hemoglobin is normal or high * 

    • Molecular genetic testing for variants in HFE gene

  • Treatment

    •  Phlebotomy(ferritin <50)

    •  Avoid dietary iron/alcohol

    • Genetic testing for family members

    • Screening for hepatocellular carcinoma

  • Complications: 

    • Liver cirrhosis and hepatocellular CA

    • Congestive heart failure

    • Cardiac arrythmias

    • Diabetes mellitus

    • Hypogonadism 

    • Thyroid dysfunction 


Polycythemia Vera 

  • Definition: abnormally high RBC, hemoglobin and hematocrit concentration 

    • Hct: >54% in men, > 47% in women 

  • Relative: hematocrit rises due to loss of plasma volume (red cell number stays the same)

  • Absolute ->  primary vs secondary; hematocrit rises due to increased red cell mass


(Absolute) – Primary
  • Chronic neoplastic, nonmalignant disease of pluripotent bone marrow cells characterized by an absolute increase in total red cell mass and elevated WBC and platelet counts

  •  Pathophysiology:

    • Erythrocytosis = principal component *

    • Clonal proliferation of erythroid progenitors is independent of EPO production 

      • Cells express a normal EPO receptor 

      • 95% of individuals exhibit an acquired point mutation in the JAK2 gene, responsible for increasing the activity of the EPO receptor but is normally self-regulatory and its activity diminishes over time

      • In PV, the JAK2 continues to be activated independent of the EPO level 

  • Clinical Manifestations 

    • Variable and depend on blood volume and viscosity

    • Abdominal pain * 

    • Hypertension

    • Angina  

    • Headache

    • Dizziness

    • Inability to concentrate

    • Difficulties with vision and hearing due to decreased cerebral flow 

    • Itching **   -- intensified by heat or exposure to water 

    • Pain in fingers and toes

  • PE Findings 

    • Splenomegaly *  

    • Venous stasis changes 

    • Red color of the face, hands, feet and ears

    • Raynaud phenomenon – fingers/toes turn white/blue in response to stress  painful digits 

    • Thromboangiitis obliterans (buerger disease) – inflammatory disease of blood vessels that leads to blockage by thrombi -> painful blue/purple fingers/toes  ulcertation/gangrene 

  • Diagnosis 

    •  Increase in the number of erythrocytes and total blood volume confirms the diagnosis

    •  Hgb concentration is typically between 14-28 g/dL and hematocrit is > 60% 

    •  Normocytic, normochromic, but anisocytosis may be present 

    •  Presence of JAK2 mutation confirms the diagnosis

  • Treatment

    •  Phlebotomy to decrease blood viscosity 

  • Complications:

    • Increased viscosity -> hypercoagulable state -> vessel thrombosis and occlusion 

    • Thrombocythemia -> increased bleeding risk -> hemorrhage 

    • Hct >50% -> cardiac dysfunction & vascular obstruction 

    • Hct >60% -> hypoxia 

    • Spontaneous transformation to acute leukemia 


(Absolute) – Secondary 
  • Results from physiologic increase in erythropoietin 

  • More common than primary 

  • Etiology

    • Typically, as a compensatory response to hypoxia

      • Chronic conditions causing hypoxia:  living at high altitudes, chronic heart and lung ds, smoking 

    • Erythropoietin secreting neoplasms 

    • Kidney disease/hydronephrosis/renal cysts -> blood flow obstruction -> increase in erythropoietin

  • Treatment

    • Focused on relieving hypoxia 

 


Pharmacotherapy of Anemias

What is anemia?

  • Anemia is a decrease in hemoglobin (Hgb) and hematocrit (Hct) concentration below the normal range for age and gender

    • Hgb = iron-rich protein found in RBCs

      • Main purpose = carry O2 from lungs to tissues

Etiology

  • Blood loss

  • Nutritional deficiency / malabsorption

  • Inflammation or malignancy

  • Inherited genetic conditions

  • Medication-induced


Symptoms

  • Mild or early stage = asymptomatic

  • Severe and/or prolonged:

    • Fatigue

    • Dizziness

    • Weakness

    • Headache

    • Pallor

    • SOB

    • anorexia


Microcytic Anemias

Iron Deficiency Anemia (IDA)
  • Causes of IDA

    • Inadequate dietary intake

      • Iron-poor diets (e.g., vegetarian, vegan); malnutrition; disease-related (e.g., dementia, psychosis)

    • Blood loss

      • Acute (e.g., GI hemorrhage); chronic (e.g., heavy menses, blood donations, peptic ulcer disease, inflammatory bowel disease); or drug-induced (e.g., NSAIDs, steroids, antiplatelets, anticoagulants)

    • Decreased iron absorptio 

      • Drugs (e.g., PPIs, H2 blockers, fluoroquinolones, tetracyclines, calcium supplements); GI diseases/procedures (e.g., celiac disease, inflammatory bowel disease, gastrectomy, gastric bypass); foods (dietary fiber, coffee, tea, eggs, milk)

    • Increased iron requirements

      • Pregnancy, lactation, infants, rapid growth (e.g., adolescence)

  • Diagnosis of IDA

    • Low Hgb

    • Microcytosis

    • Low reticulocyte

    • Low serum and ferritin

    • Low transferrin saturation

    • High TIBC (binding affinity)


  • IDA: Goals of Therapy

    • Normalize laboratory abnormalities and improve quality of life

    • Consists of dietary supplementation & iron preparations (PO/IV)

      • Hgb should increase by 0.7-1 g/week

    • May take 6-8 weeks for hemoglobin to improve, and up to 6 months to replete iron stores

      • Serum ferritin > 500 ng/L

    • Treatment of IDA

      • Oral iron supplementation

        • Will adequately treat the majority of patients with IDA

        • Recommended dose: 100-200 mg elemental iron per day

      • Parenteral iron supplementation

        • Typically reserved for select patient populations due to a higher risk of side effects, cost, and burden of administration

      • Newer studies suggest every other day administration is associated with improved absorption and less side effects

  • Treatment of IDA: Oral Iron

    • Dose: 100-200 mg elemental iron per day, or every other day

    • Ferrous fumarate has 33% Fe

Ferrous gluconate has 11.6% Fe

  • Oral Iron: Adverse Effects

    • Metallic taste

    • NV- Take with food!

    • Constipation- use stool softener

    • Dark stool

  • Oral Iron: Drug Interactions

    • Drugs that decrease iron absorption

      • Drugs that reduce acidity of stomach bc iron is absorbed best in acidic environment

        • Basic ions Al-, Mg- Ca- like antacids

        • Histamine-2 receptor antagonist

        • PPI

      • Tetracycline antibiotics: binds to iron to form insoluable complex

    • Vitamin C can increase absorption of iron bc increase acidity

    • Iron decreases the absorption of these drugs

      • Bisphosphanates

      • Levodopa

      • Levothyroxine

      • Fluoroquinolone antibiotics - bind to form insoluable complex

      • Tetracycline antibiotics - bind to form insoluable complex

  • Oral Iron: Patient Counseling

    • Monitor CBC and iron studies:

      • Monthly x 3 months; then,

      • Every 3 months x 1 year (depending on length of treatment)

    • WARNING

      • Accidental overdose of iron-containing product = LEADING cause of death in children < 6 years

      • Educate on proper storage – keep out of reach of children

      • Antidote = deferoxamine

  • Indications for IV Iron

    • Chronic bleeding

    • Intestinal malabsorption

    • Intolerant to PO iron

    • Non-adherence

    • Hgb under 6 and poor perfusion

  • IV Iron Preparations

    • Iron Dextran

    • Ferumoxytol

    • Iron sucrose

    • Sodium ferric gluconate

    • Ferric carboxymaltose

  • IV Iron: Adverse Effects

    • Black Box Warning (Iron Dextran)

      • Anaphylaxis (hypotension, syncope, unresponsiveness, cardiac arrest)

      • MUST administer test dose with trained personnel

    • Side effects:

      • Nausea, vomiting, pruritis, headache, flushing

      • Myalgia, arthralgia, back pain, chest pain – resolve within 48 hours

    • Monitor:

      • CBC, reticulocyte count, iron studies, symptom improvement

Macrocytic Anemias

Vitamin B12 Deficiency/aka Pernicious Anemia
  • Causes of Vitamin B12 Deficiency

    • Dietary deficiency

      • Malnutrition, strict vegan diet

    • Decreased production of intrinsic factor

      • Alcoholism, gastrectomy, surgical resection of ileum, inherited genetic condition 

    • Disease

      • Chronic (pancreatic insufficiency, Crohn’s disease); acute (H. pylori infection, fish tapeworm); malignancy

    • Drug-induced

      • Long-term use (i.e., > 2 years) of metformin, histamine-2 receptor blockers, proton pump inhibitors

  • Symptoms of Vitamin B12 Deficiency

    • Gastric mucosal atrophy

    • Neuropsychiatric abnormalities

      • Paranoia

      • Delirium

      • Confusion

      • Irritability

      • Dementia

    • Yellow-blue color blindness

    • GI manifestations

      • Anorexia

      • Intermittent constipation and diarrhea

      • Poorly localized abdominal pain

  • EARLY SYMPTOMS

    • Glossitis

    • Weight loss

    • Neurologic:   

      •  -  Weakness

      •   -  Loss of reflexes

      •   -  Peripheral loss of position/vibratory 

      • sensation in extremities

  • LATE-STAGE SYMPTOMS

    • Spasticity

    • Babinski responses

    • Ataxia

Early  diagnosis is IMPORTANT as untreated neurologic deficits are IRREVERSIBLE

  • Diagnosis of Vitamin B12 Deficiency

    • MMA elevated

    • Serum B12 low

    • Homocysteine elevated

  • Treatment of B12 Deficiency

    • Cyanocobalamin (vitamin B12)

      • Parenteral administration (intramuscular or subcutaneous) – indicated for lack of intrinsic factor; to bypass absorption barriers

        • Malabsorption, bariatric surgery, gastrectomy

        • Always indicated if neurologic symptoms are present

    • Cyanocobalamin (vitamin B12)

      • Oral administration – indicated for dietary deficiency

      • May also follow up parenteral therapy with long-term oral treatment 

  • Goals of Therapy

    • Clinical improvement: increased alertness, appetite, cooperation

    • Avoid irreversible neurologic defects (will occur if left untreated for > 3 months)

Treatment of B12 Deficiency

  • Cyanocobalamin

    • Contraindications (PO/IV)

      • Hypersensitivity to cobalt or B12 (test dose if suspected)

    • Adverse effects (RARE)

      • Pain with injection

      • Rash, polycythemia vera

      • Pulmonary edema

Folate Deficiency
  • Folic acid is necessary to produce nucleic proteins, amino acids, purines, and thymine

    • Humans are unable to synthesize total daily folate requirement – depend on a dietary source

  • Sources of folic acid = vegetables (especially green leafy veg), fruits (citrus), yeast, mushrooms, animal organs (liver, kidney)

    • Minimum daily requirement = 50 to 100 mcg

  • Deficiency results in the development of large, functionally immature erythrocytes

  • Causes of Folate Deficiency

    • Poor eating habits

      • Older adults, alcoholics, chronically ill

    • Inadequate absorption

      • Malabsorption syndromes, Crohn’s disease, celiac disease

      • Drug-induced: methotrexate, phenytoin, phenobarbital, sulfasalazine, trimethoprim-sulfamethoxazole

    • Increased requirements for folic acid

      • Pregnancy, lactation

    • Increased excretion

      • Renal dialysis

  • Symptoms of Folate Deficiency

    • Weakness

    • Fatigue

    • Difficult concentrating

    • Irritability

    • Headache

    • Shortness of breath

    • Palpitations

    • No neurologic changes


  • Diagnosis of Folate Deficiency

    • Folic acid lvl low

    • Methymalonic acid is normal

    • Homocysteine is high

  • Treatment of Folate Deficiency

    • Folic acid 1 mg PO daily

    • Treat indefinitely:

      • Hemolytic anemia, malabsorption, chronic malnutrition

    • Adverse effects:

      • Erythema, skin rash, nausea, abdominal distention, altered sleep patterns, irritability, mental depression, confusion, impaired judgment

  • Clinical improvement noted by

    • Increased alertness

    • Appetite

    • cooperation


Normocytic Anemias

Anemia of Chronic Kidney Disease
  • Complication of renal failure, primarily due to reduced erythropoietin (EPO) production by the kidneys

  • EPO signals bone marrow to produce RBC

  • Risk factors for worsening renal function:

    • Hypertension

    • Diabetes

    • Family history

    • Older age

    • Presence of proteinuria

    • Structural abnormalities

  • Goals of Therapy

    • Treat underlying renal disease

    • Slow progression & prevent/treat complications of renal failure

    • Electrolyte management & pharmacologic adjustments

      • Multivitamin

      • Iron supplementation

      • Phosphorus-binding agent

      • Dose adjustments for renally cleared or harmful mediations

  • Treatment of Anemia of CKD

    • Erythropoiesis-Stimulating Agents (ESAs)

      • Target Hgb 9-11 g/dL, use lowest possible dose

      • Indication: anemia due to chronic kidney disease

      • MOA: stimulates production of RBC from progenitor cells in bone marrow

      • Blackbox warning:

        • Cardiovascular events

        • Cancer

        • CKD: greater risk for death

      • Contraindication

        • Uncontrolled hypertension

        • Hypersensitivity to mammalian cell products or human albumin

      • Adverse effects

        • Infection

        • hyper/hypotension

        • myalgia


Hemolytic Anemias

Sickle Cell Disease (SCD)
  • Autosomal recessive disorder that affects hemoglobin

  • Characterized by “sickle”-shaped red blood cells and painful crises

  • Affects > 100,000 people in the United States

    • 1 in 3 African Americans are born with sickle cell trait

    • 1 in 365 African Americans are born with sickle cell disease

  • Goals of Therapy

    • Primary prevention & treatment of complications

    • Immunizations (Refer to CDC immunization schedule for updates)

      • Haemophilus influenzae type B (Hib)

      • Hepatitis B vaccine

      • Pneumococcal vaccine

      • Meningococcal vaccine

    • Folic acid 1 mg PO daily

  • Treatment: Hydroxyurea (disease-modifying agent)

    • Reduced frequency of acute pain crises, reduces episodes of acute chest syndrome, reduces need for blood transfusion

    • Indicated for adults:

      • with > 3 moderate to severe pain crises in 1 year; or

      • with severe or recurrent acute chest syndrome, chronic symptomatic anemia, or disability

    • Use should be considered in all children > 9 months of age regardless of disease severity

    • Mechanism of Action:  Antimetabolite

      • Stimulates production of hemoglobin F (HgbF)

      • Increases water content of RBC

      • Increases deformability of sickle cells

      • Alters adhesion of RBC to endothelium of vessels

    • Hydroxyurea: Hematologic Toxicity

      • Hold therapy of blood count considered toxic

      • May resume once recovered after reducing dose 

      • Discontinue permanently if pt develops hematologic toxicity twice

    • Black box warning

      • Myelosuppresion and malignacy

    • AE

      • Infections

      • Skin ulcers

      • N/V/D

      • Low sperm count

      • Alopecia

      • Hyperpigmentation

    • Drug interaction

      • Antiretrovirals

      • Live vaccines: inc risk of severe infection

    • Use gloves while handling and wash hands before/after 

    • Should be swallowed whole. If unable, patients may disperse tablet in small quantity of water in a teaspoon

    • If split tablets: must be used within 3 months once broken

    • Recommend sun protection and avoiding prolonged exposure

    • Use contraception during and after treatment (bc causes embryo-fetal toxicity)

      • Females: at least 6 months after completing treatment

      • Males: at least 12 months after completing treatment

  • SCD Treatment: Voxelotor

    • Indication: the treatment of sickle cell disease

      • Accelerated approval in 2019

    • Mechanism of Action: 

      • Hemoglobin S (HbS) polymerization inhibitor that binds to HbS and helps to increase HbS affinity for oxygen

      • Has demonstrated a dose-dependent reduction in clinical measures of hemolysis (indirect bilirubin and reticulocytes)

    • Precautions

      • Hypersensitivity reaction 

        • Includes stuff like rash, hives, SOB, mild facial swelling, eosinophilia

        • DRESS: drug reaction with eosinophilia and systemic symptoms

    • Voxelotor: Patient Counseling

      • Swallow tablets whole – Do not cut, crush or chew tablets

      • Tablets for suspension

        • Disperse tablet in room temperature clear liquid (water, clear soda, apple juice, clear electrolyte drinks, clear flavored drink) immediately before taking

      • If missed dose, skip that dose and return to normal schedule the next day

      • May take with or without food

  • SCD Treatment: Crizanlizumab

    • Indication: reduce freq of vaso-occlusive crisis in patients 16 and older with sickle cell disease

    • Precautions

      • Infusion related reactions


Other Anemias

Thalassemia
  • Hereditary disorder of hemoglobin synthesis

  • Decrease in production of either alpha- or beta-globins or structurally abnormal chain

  • Pallor and splenomegaly on examination

  • Complications: growth failure, bony deformities, jaundice, leg ulcers, cholelithiasis

  • Alpha-Thalassemia Trait

    • Mild anemia, Hct 28-40%, low MCV, RBC normal to high

  • Hemoglobin H

    • Hemolytic anemia, Hct 20-30%, low MCV, reticulocyte count elevated

  • Beta Thalassemia

    • Minor: modest anemia, Hct 28-40%, MCV 50-75 fL, RBC normal to high

    • Intermedia: hemolytic anemia, low MCV

    • Major: severe anemia, Hct <10%

  • Thalassemia: Treatment

    • Alpha-thalassemia & beta-thalassemia minor: 

      • No treatment

    • Hemoglobin H & beta-thalassemia intermedia:

      • Folate supplements

      • Avoid iron & oxidative drugs

    • Beta-thalassemia major: 

      • Regular transfusion schedule & folate supplementation

        • Iron chelation therapy + deferoxamine for iron overload

        • Hemochromatosis, heart failure, cirrhosis, endocrinopathies 


Aplastic Anemia
  • Condition of bone marrow failure that can be hereditary or arise from injury to or abnormal expression of stem cell

  • Lab values: pancytopenia

  • Presentation & Etiology

    • Symptoms: 

      •  Fatigue, dyspnea, weakness, skin or mucosal hemorrhage, retinal hemorrhage (visual disturbance)

      •   Pallor, purpura, petechiae (lack of thrombocytes so bleeding

    • Etiology

      • Exposure to toxins (pesticides and heavy metal)

      • Pregnancy, viral infection, autoimmune

      • Chemotherapy and radiation

      • Drug induced

      • Fanconi anemia

      • Idiopathic

  • Aplastic Anemia: Drugs Associated

    • NSAIDS

    • Anticonvulsants

    • Sulfonamides

    • Antihistamines

    • Estrogens

    • Allopurinol

    • Quinidine

    • Lithium

  • Aplastic Anemia: Goals of Therapy

    • Supportive Care 

      • Blood transfusion 

      • Antibiotics 

      • Discontinue therapy, if drug induced

    • Severe acquired aplastic anemia may require stem cell transplant and/or immunosuppression therapy 

      • Over 40: immunosuppresion

      • Under 40: stem cell transplant


Acute Blood Loss Anemia
  • Anemia from Blood Loss

  • Results from massive hemorrhage associated with spontaneous or traumatic rupture or incision of a large blood vessel

  • Acute (trauma) or chronic blood loss

  • Symptoms vary based on severity of volume lost

    • Hypotension, tachycardia, confusion, dyspnea, diaphoresis

  • Diagnosis

    • RBC count, hemoglobin and hematocrit may be high during and immediately following blood loss due to vasoconstriction

    • Fluid will eventually enter circulation and result in hemodilution a few hours later 

      • Leading to a drop in RBC and hemoglobin

    • May require additional labs and/or procedures to determine source

  • Goals of therapy

    • Hemostasis

    • Restore blood volume

    • Treat shock