Quesmed videos (haemolytic anaemia 3)

Question 1

What is the inheritance pattern for hereditary spherocytosis?

Answer 1

Autosomal dominant

Question 2

What is hereditary spherocytosis?

Answer 2

An inherited blood disorder. It happens because of a problem with the red blood cells (RBCs).

Instead of being shaped like a disk, the cells are round like a sphere.

These red blood cells (called spherocytes) are more fragile than disk-shaped RBCs.

Question 3

What ethnicity is commonly affected by hereditary spherocytosis?

Answer 3

Northern European populations i.e. Sweden, Finland etc.

Question 4

What are common symptoms of hereditary spherocytosis?

Answer 4

Neonatal jaundice (in first week of life)

Anaemia

Splenomegaly

Failure to thrive

Gallstones

Question 5

What is the diagnostic test for hereditary spherocytosis?

Answer 5

EMA binding test (a fluorescent dye that binds to membrane proteins in RBC).

This is reduced in hereditary spherocytosis.

Question 6

What is treatment of hereditary spherocytosis?

Answer 6

Acute crisis: supportive, transfusions (for severe anaemia)

Mild crisis: folic acid supplementation (to prevent megaloblastic crisis)

Severe: splenectomy (curative)

Question 7

What are complications of hereditary spherocytosis?

Answer 7

Haemolytic crisis (triggered by non-specific viral infections - would present with anaemia, jaundice and splenomegaly).

Megaloblastic crisis (relative folate deficiency - body trying to compensate for RBC destruction)

Aplastic crisis (parvovirus attracts erythrocyte precursors in bone marrow).