Hematology

Question 1

Vitamin B12 def

Answer 1

Absorbed in terminal ileum
- inadequate dietary intake, inability to secrete intrinsic factor, inability to absorb B12
Sx: anemia, anorexia, smooth red tongue, neuro manifestations (ataxia, hyporeflexia, positive babinski)

Question 2

hereditary spherocytosis

Answer 2

most common inherited abnormality of RBC membrane
- defect in spectrin, auto dom
Sx: splenomegaly by 2-3 years, pallor, weakness, pigmentary gallstones, aplastic crises
Dx: hyperbilirubinemia, spherocytes, abnl RBC fragility with osmotic fragility studies

Question 3

hereditary elliptocytosis

Answer 3

auto dom defect in spectrin

- splenectomy if on chronic hemolysis or asymptomatic

Question 4

pyruvate kinase deficiency

Answer 4

auto rec, ATp depletion and decreased RBC survival
Sx: pallor, jaundice, splenomegaly
Dx: polychromatic RBCs

Question 5

G6PD deficiency

Answer 5

most common RBC defect
- acute or chronic
Sx: hemolysis, abd pain, vomiting/diarrhea, fever, hemoglobinuria
Dx: bite cells and hemighosts/heinz bodies
Triggers: fava beans, infection, drugs

Question 6

diamond-blackfan anemia

Answer 6

congenital hypoplastic anemia
Sx: anemia in first year of life, craniofacial, renal, cardiac anomalies, short stature
Dx: decr hgb, decr retic, increased hgb f, decr or nl platelet count
Tx: RBC transfusion, corticosteroids

Question 7

transient erythroblastopenia of childhood

Answer 7

Sx: anemia begin > 1 year
Dx: decr Hgb, decr retic, nl platelet count

Question 8

fanconi anemia

Answer 8

congenital aplastic anemia, auto rec
Sx: mean age of 7 years with ecchymosis and petechiae
- short stature, absence or hypoplasia of thumb and radius
- skin hyperpigmentation
- renal abnormalities
Dx: pancytopenia, macrocytosis, low retic count, eleated hgb F, bone marrow hypocellularity

Question 9

acquired aplastic anemia

Answer 9

Cause: drugss (sulfa, anticonvulsant, chloramphenicol), infections (HIV, EBV, CMV), chemicals, radiation
Sx: bruising, petechiae, pallor, infections

Question 10

factor VIII def - hemophilia A

Answer 10

xlinked
Sx: hemarthrosis and deep soft tissue bleeding, serious and life threatening hemorrhage lifelong
Dx: aPTT prolonged, PT/BT/platelet normal
Tx: prevention of trauma, replacement of factor VIII, DDAVP

Question 11

von willebrand disease

Answer 11

most common hereditary bleeding disorder, auto dom
Sx: mild to moderate bleeding involving mucocutaneous surfaces
- epistaxis, menorrhagia, bruising, bleeding
Dx: BT and aPTT prolonged, PT/platelet normal
Tx: DDAVP

Question 12

vit k def

Answer 12

factors II, VII, IX, X, C, S
Cause: rifampin, ceph, INH, warfarin
Sx: bruising, oozing from skin, hemorrhagic disease of the newborn
Dx: prolonged aPTT and PT

Question 13

DIC

Answer 13

Sx: thrombocyto, prolonged PT and aPTT, reduction in clotting factors, elevated fibrin degradation products
Tx: FFP, fibrinogen, platelets

Question 14

ITP

Answer 14

viral drug induced or idiopathic (most common)
Sx: cutaneous bleeding after viral infection
Dx: thrombo, sticky platelets
Tx: IVIG

Question 15

protein c def

Answer 15

vit K dependent factor, anti coag protein
Sx: purpura fulminans, fever, shock, skin bleeding, thrombosis
Tx: heparin, FFP, warfarin

Question 16

chronic benign neutropenia of childhood

Answer 16

younger than 4
Sx: variable course mild infections
Dx: low ANC with nl or low WBC

Question 17

kostmann syndrome

Answer 17

severe cong agranulocytosis, auto rec

- freq and life threatening pyogenic bacterial infections

Question 18

chediak higashi

Answer 18

auto rec

Sx: oculocutaneous albnism, blue granules in cytoplasm of neutrophils, neutrophenia, blond hair

Question 19

cartilagae hair hypoplasia syndrome

Answer 19

auto rec

Sx: short stature, immunodeficiency, fine hair, neutropenia

Question 20

schwachman-diamond syndrome

Answer 20

Sx: exocrine panc insufficiency, short stature, chondrodysplasia, neutropenia