Hemolytic Anemia

Question 1

8 mo old male
jaundice
dyspnea
tachycardia, splenomegaly
family history of "blood disease"
hgb - 8.5 g/dL, Hct - 29%, MCV - 85, MCH - normal
increased reticulocyte and MCHC
normal WBC and platelet count

Answer 1

Hereditary Spherocytosis

Question 2

MC inherited enzymatic disorder

genetic defect in the RBC glucose 6 phosphate dehydrogenase

Answer 2

G6PD DEFICIENCY

Question 3

MCC of hemolytic anemia d.t. red cell membrane defect

abnormalities of ankyrin and spectrin (erythrocyte skeletal proteins) –> ↓ membrane volume ratio –> loss of biconcave shape –> cells become more fragile –> cells trapped in the spleen and destroyed

Answer 3

Hereditary Spherocytosis

Question 4

Manifestations of hereditary spherocytosis

Answer 4

pallor, jaundice
splenomegaly
susceptible to aplastic crisis

Question 5

Diagnostics of hereditary spherocytosis

Answer 5

CBC – high MCHC, high reticulocyte count, normal MCV

peripheral smear – spherocytes

↑ indirect bilirubin level

Question 6

Treatment of hereditary spherocytosis

Answer 6

Splenectomy

Folate supplementation

Question 7

18 y/o African American female
extreme pain and discomfort in legs and lower back
extreme fatigue
jaundiced
Hct - 23%
Hgb - 7 g/dL

Answer 7

Sickle Cell Disease

develops at around 6 mos of age when sickle cell Hgb replaces HbF (d.t. single missense mutation in the B globin gene of Hgb)

Question 8

Manifestations of SCD

Answer 8

vasoocclusive phenomena and hemolysis

recurrent painful episodes from hypoxic tissue injury

organ system complications