50. Congenital Microferocytosis anemia

Question 1

What is congenital micro-spherocytic anemia?

Answer 1

A genetic disorder characterized by abnormalities in the red blood cell membrane, leading to the formation of spherical-shaped RBCs, known as spherocytes.

Question 2

What are the main pathophysiological features of congenital micro-spherocytic anemia?

Answer 2

Partial deficiency of spectrin, ankyrin, band 3, or protein 4.2, increased rigidity of RBC membrane, and trapping of RBCs in the spleen.

Question 3

What are the clinical manifestations of congenital micro-spherocytic anemia?

Answer 3

Symptoms range from asymptomatic with mild anemia to severe cases with symptomatic anemia, jaundice, splenomegaly, and gallstones.

Question 4

What triggers hemolytic crises in congenital micro-spherocytic anemia?

Answer 4

Factors like infection, dehydration, or certain medications.

Question 5

What are the key diagnostic features for congenital micro-spherocytic anemia?

Answer 5

Family history of hereditary spherocytosis, blood film showing increased spherocytes, anemia, elevated reticulocytes, LDH, unconjugated bilirubin, and decreased haptoglobins.

Question 6

What tests are used to confirm hereditary spherocytosis?

Answer 6

Eosin-5’-maleimide (EMA) binding test, osmotic fragility test, and autohemolysis test.

Question 7

What is the treatment for congenital micro-spherocytic anemia?

Answer 7

Supportive care with folic acid supplementation, blood transfusion during parvovirus crisis, and splenectomy for severely anemic or symptomatic patients.

Question 8

Why is splenectomy avoided in children under six?

Answer 8

Due to increased risk of fatal infections post-splenectomy.