Week 13 - Hematology Pt. 3

Genetic disorder causing abnormal hemoglobin production, leading to ineffective erythropoiesis.

Definition of Thalassemia

Inherited mutations affecting the alpha or beta globin genes.

Causes of Thalassemia

Hemoglobin electrophoresis, genetic testing, low hemoglobin, high RBC count, microcytic hypochromic anemia.

Diagnosis of Thalassemia

Myeloproliferative disorder causing overproduction of red blood cells, white blood cells, and platelets.

Definition of Polycythemia vera

Mutation in the JAK2 gene.

Cause of PV

Elevated red blood cell mass, high hemoglobin and hematocrit, low erythropoietin levels, JAK2 mutation test.

Diagnosis of PV

Genetic disorder leading to deficiency of specific clotting factors (Factor VIII or IX).

Definition of Hemophilia

Inherited mutations in F8 or F9 gene (X-linked recessive).

Causes of hemophilia

Prolonged aPTT, normal PT, specific factor assays showing low Factor VIII or IX levels.

Diagnosis of hemophilia

Severe disorder causing widespread clotting and bleeding throughout the body.

DIC definition

Sepsis, trauma, cancer, obstetric complications, severe infections.

Causes of DIC

Elevated D-dimer, prolonged PT and aPTT, low platelets, low fibrinogen, schistocytes on blood smear.

Diagnosis of DIC

Autoimmune disorder leading to destruction of platelets and low platelet count (thrombocytopenia).

Definition of ITP

Often idiopathic, but can be triggered by infections, certain medications, or autoimmune conditions.

Cause of ITP

Low platelet count, normal bone marrow, presence of antiplatelet antibodies, exclusion of other causes.

Diagnosis of ITP

Fatigue, pallor, jaundice, bone deformities, enlarged spleen

Primary symptom of Thalassemia

Iron overload
Bone deformities
Organ damage

Complications of Thalassemia

Microcytic, hypochromic anemia, abnormal hemoglobin electrophoresis

Lab findings of Thalassemia

Reddish skin, splenomegaly, pruritus, epigastric pain, headache

Primary symptom of PV

Blood clots, stroke, heart attack, enlarged spleen, gout

Complications of PV

Elevated RBC count
Hematocrit
Hemoglobin and WBCs
JAK2 mutation

Lab findings of PV

Excessive bleeding
Joint bleeding
Easy bruising
Nosebleeds

Primary symptoms of hemophilia

Joint damage from hemarthrosis
Deep internal bleeding
Infections

Complications of hemophilia

Low Factor VIII or IX
Prolonged clotting time (aPTT)
Normal PT

Lab findings of hemophilia

Bleeding (petachiae, purpura)
Thromboembolism
Multi-organ failure

DIC Primary symptoms

Multi organ dysfunction
Hypovolemic shock
Severe bleeding

Complications of DIC

Low platelets
Prolonged PT/aPTT
Elevated D-dimer
Low Fibrinogen

Lab findings of DIC

T - Thin and small RBC (microcytic)
H - Hemoglobin synthesis defect (alpha or beta chain)
A - Anemia (chronic)
L - Low hemoglobin, high RBC count, iron overload

Thalassemia (THAL)

H - Hemorrhages (spontaneous bleeding, esp in joints)
E - Easy bruising
L - Lack of clotting factors (VIII for hemophilia A, IX for hemophilia B)
P - Prolonged aPTT (clotting time)

Hemophilia (HELP)

V - viscous blood (thickened due to high RBC)
E - elevated hematocrit, hemoglobin, and RBC
R - Ruddy complexion (reddish-purple hue of skin)
A - Abnormal JAK2 mutation

Polycythemia Vera (VERA)

C - Clotting and bleeding simultaneously
L - Low platelets (thrombocytopenia)
O - Oozing blood from various sites (petachiae, purpura)
T - Thrombus formation (blood clots in small vessels)
T - Time (prolonged PT, aPTT)
I - Increased D-dimer (fibrin breakdown)
N - Need to treat underlying cause
G - Gangrene or organ failure

M - Microvascular clotting
A - Altered mental status
D - Death if untreated

Disseminated Intravascular Coagulation (DIC)

CLOTTING GONE MAD