Heme, Anemia (1/2 mix) (reviewed 2025)

Which test shows percentage of different Hb?

Hemoglobin Electrophoresis

•Dec alpha chain synthesis

Alpha Thal

•Dec beta chain synthesis

Beta Thal

What are the T.H.A.L findings

•T - Target cells

•H - Howell jolly bodies

•A - Anisocytosis

•L - Low MCV (microcytic)

Beta thal _____ and ____ are similar in presentation

major, intermedia

Beta thal _____ typically has no sxs

minor

With beta thal, Hb electrophoresis will show increased Hb ____ and ___

A2 and F

Beta thal minor typically requires no tx, but you should avoid ______ overload

iron

Beta Thalassemia Major is AKA _____ anemia

cooley

What are some manifestations of hemolysis?

•Jaundice, gallstones, hyperuricemia, gouty nephropathy

What are some cranial MSK abnormalities associated with beta thal major?

frontal bossing, maxillary hypertrophy, depression of nasal bridge - chipmunk facies

What can be seen on XR w beta thal major?

hair on end

SCT/hct is the mainstay of therapy w beta thal major but chronic _______ can be used if they are not eligible

transfusions

Alpha thal minor (trait) is usually the loss of _____ chain(s)

2

Alpha thal carriers usually have a loss of ____ chain(s)

1

What is the defect in alpha thal major?

Loss of all 4 alpha

Term describing manifestations of alpha thal major

hydrops fetalis (edema, heart failure, not compatible w life)

What type of Hb is present in alpha thal major

Hb Barts

How will TIBC be affected by Fe def

high

How will serum iron/ferritin be affected by Fe def?

low

What indices are associated w Fe def?

microcytic

hypochromic ******

What is the MCC of Fe def?

blood loss

What is a common cause of blood loss in a young female?

menstrual (menorrhagia)

What is a concerning cost of blood loss in post menopausal females & males of any age

occult bleeding - GI cancer

What is pica

eating non food items

Which type of Fe def leads to pica

Fe def

Derm manifestations of Fe def

•koilonychia (late) - spooning of nails

Which syndrome is characterized by dysphagia, iron deficiency anemia, esophageal webs

Plummer vinson

Tx for IDA

replace iron!

+/- transfusions prn

Which vitamin increases absorption of Fe

vit C !

MC SE of Fe supplementation

GI

Term - Focal deposition iron WITHOUT associated tissue damage

hemosiderosis

Mutation leading to Hereditary Hemochromatosis

HFE gene

What happens in Hereditary Hemochromatosis

ineffective sensing of iron stores à increased iron absorption = iron overload

Skin findings of Hereditary Hemochromatosis

bronzing - inc pigmentation

Hereditary Hemochromatosis can lead to inc glucose 2/2 pancreatic damage. What term is used to describe these pts?

bronze diabetics

The excess iron in Hereditary Hemochromatosis can lead to multi system organ damage... review those manifestations on the "Hemochromatosis: S/S" slide

•Skin - inc pigmentation

•Pancreas - diabetes ... "bronze diabetics" à inc glucose

•Liver - damage (hepatitis/cirrhosis), hepatomegaly à inc LFTs

•Thyroid/Gonads - hair loss, menstrual pattern changes, hypogonadism

•Pituitary, hypothalamus

•Heart - congestive heart failure, cardiomyopathy

•MSK - arthropathy, osteoporosis

•

How will the iron studies appear in Hemochromatosis, inc or dec?

increased

What is the initial, non mutagenic therapy used in Hemochromatosis

phlebotomy

If phlebotomy is not effective for Hemochromatosis, what can be done?

•Chelation with Desferioxamine (DFO)

Which type of anemia involves a mitochondrial defect that prevents Fe incorporation into Hb --> iron accumulates in mitochondria surrounding RBC nucleus forming a ring

Sideroblastic Anemia

Common toxins/drugs leading to Sideroblastic Anemia

•ETOH, lead

Sideroblastic Anemia leads to a _______ (MCV term) anemia with ELEVATED Iron and Ferritin

MICROCYTIC

Tx for congenital Sideroblastic Anemia

Pyridoxine (B6) - in congenital

sickle cell inheritance

autosomal recessive

Sickle Cell: MC ethnicity

AA

What occurs to the Hb in SCD?

•Deoxygenation (acidosis, hypoxia, temp changes, bodily stress) leads to formation of rigid Hb S polymers

What happens to the spleen in SCD?

•Splenic infarction leads to functional hyposplenism (autosplenectomy) early in life à inc risk of infxn

What labs are associated w hemolysis

inc bilirubin, LDH ... dec haptoglobin

What is the MC crisis of SCD

vasocclusive

What complication of SCD - cough, pulm infiltrates on chest XR?

acute chest syndrome

Neurologic complication of SCD

STROKE (CVA) .....why there is screening w TCD

MC organism causing osteomyelitis in SCD

salmonella *

Which abx should be used for prophylaxis in kids w SCD

penicillin

•4mo - 6 years

Which vaccines should be used for prophylaxis in kids w SCD

•Vaccines against encapsulated organisms: PMH!

Which SCD tx can be used to inc HbF ?

•Hydroxyurea - inc HbF (stronger affinity to O2), reduces sickling/crises

Name a few drug related causes of macrocytosis

•PPIs ***********

•Metformin *****************

•Methotrexate ***********

•Hydroxyurea

•Azathioprine

((dont need to know mechanisms)

What are the 2 causes of Megal/o/blastic Anemia

B12, folate def

How will WBC be affected by Megal/o/blastic Anemia

hypersegmented neutrophils

How will folate def affect MMA and homocysteine ?

inc homocysteine

How will B12 def affect MMA and homocysteine ?

both inc

Other name for B12

Cobalamin

Time to deplete b12 stores

years ....

What is needed for absorption of B12

IF

Where is IF produced

stomach (parietal cells)

Where is B12 absorbed?

terminal ileum

MCC of B12 def

pernicious anemia

What surgery could lead to B12 def?

gastric bypass, gastrectomy

What meds could lead to B12 def bc they affect the pH of stomach

h2 blockers , ppis (meds for GERD)

What type of infections can lead to B12 def

tapeworms!

Which sx differentiates b12 and folate def?

neuropsych w b12

MCV w b12/folate def

inc ....macrocytic

Special tests for pernicious anemia

•Intrinsic factor antibodies (anti-IF ab)

Parietal cell antibodies (anti-parietal cell ab)

Common setting of folate def that is diet related

alcohol dependence*******

What meds are associated w folate def

•Anticonvulsants (phenytoin)

•TMP/SMX (Abx) (folate antagonist)

Causes of normocytic anemia

NORMAL SIZE

•Normal pregnancy

•Over-hydration

•Renal disease

•Myelophthistic (displacement of hematopoeitic tissue)

•Acute Blood Loss

•Liver Disease

•

•Systemic Infection (anemia of chronic disease)

•Inflammation

•Zero production (aplastic)

•Endocrine (hypothyroid, hypoadrenal, decreased androgen production)

How does pregnancy lead to normocytic anemia

dilution (inc plasma)

How does chronic disease lead to normocytic anemia

•Inflammation --> inc hepcidin --> iron sequestration in macrophages

Levels of ferritin in chronic disease

inc

Cause of anemia in CKD

low erythropoietin (EPO) levels + uremic toxins shorten lifespan of RBCs

Tx of anemia in CKD

Recombinant erythropoietin

Which type of anemia --> Patho: marrow failure à marked hypocellularity in BM

aplastic anemia

aplastic anemia leads to _______ (depression of all 3 cell lines)

pancytopenia

Aplastic Anemia can be caused by radiation, fibrosis, or exposure to certain medications - which ones?

chloramphenicol (abx), trimethoprim (abx),

Which virus is associated w Aplastic Anemia

parvovirus

Immune related hemolytic anemia is detected by the ...

Coomb's

Direct Coombs test checks for what?

•Checks for antibodies that are attached to RBC surface

indirect Coombs test checks for what?

•Checks for unattached antibodies that are floating in the bloodstream

Warm AIHA smear

•Smear: spherocytes

Cold AIHA smear

•Smear: agglutination

Treatment for AIHA

Steroids****** , immune suppressants, IVIG, plasmapharesis

What type of anemia is caused by •Mechanical disruption of RBC as they pass thru small vessels

Microangiopathic Hemolytic Anemia (MAHA)

Smear finding of Microangiopathic Hemolytic Anemia (MAHA)

•Schistocytes

Spherocytosis is caused by a deficiency of _____

spectrin

How do spherocytes appear?

•no central pallor, small, round (sphere) shape = spherocytes

Test for Spherocytosis

Osmotic fragility test

Mutation in Paroxysmal Nocturnal Hemoglobinuria (PNH)

PIGA def

CBC of Paroxysmal Nocturnal Hemoglobinuria (PNH)

pancytopenia

Paroxysmal Nocturnal Hemoglobinuria (PNH) also leads to inc or dec clotting

inc

Urine finding of Paroxysmal Nocturnal Hemoglobinuria (PNH)

•-> Dark coca colored urine (worse at night)