Hereditary spherocytosis

Question 1

Management of acute aplastic crisis

Answer 1

Observation (bone marrow suppression from infection is usually self-limited. May require transfusion though)

Question 2

Clinical course

Answer 2

Wide variation (severe anemia to mild asymptomatic disease)

Question 3

Transmission

Answer 3

autosomal dominant

Question 4

Why can patients with hemolytic anemia have macrocytosis?

Answer 4

folic acid deficiency

Question 5

Management

Answer 5

IF mild, asymptomatic disease →
RBC transfusions for anemia folic acid supplement
Immunizations up to date
IF chronic, symptomatic hemolytic anemia OR painful splenomegaly → splenectomy

Question 6

Common trigger for aplastic crises in spherocytosis + pathophys

Answer 6

Acute viral infection

- Bone marrow suppression, reticulocyte count falls, and patient rapidly develops symptomatic anemia

Question 7

lab feature

Answer 7

Elevated MCHC (spherocytes)

Question 8

Clinical course

Answer 8

Highly variable (some patients have few or no symptoms)

Question 9

Where is the major site of erythrocyte destruction?

Answer 9

The spleen

Question 10

Diagnosis of HS

Answer 10

• eosin-5-maleimide binding (flow cytometry)
• OR acidified glycerol lysis tests

Question 11

pathophysiology of HS

Answer 11

• gene mutation in RBC membrane proteins, leading to RBC instability and phagocytosis in the spleen

Question 12

heritance

Answer 12

autosomal dominant (in 75% of cases)