Heritary Spheroocytosis

Question 1

What is hereditary spherocytosis?
What type of disease?
Where is it most prevalent?

Answer 1

Autosomal dominant membranopathy
N Europe + America

Question 2

Pathology of hereditary spherocytosis

Answer 2

Deficiency in structural membrane protein SPECTRIN
RBCs are more spherical (low SA) + rigid

Causes increased splenic recycling (extra vascular haemolysis) - causes splenomegaly as rigid cells get stuck in spleen (risk of autosplenectomy)

Question 3

Symptoms of hereditary spherocytosis

Answer 3

General anemia
Neonatal jaundice
Splenomagaly
Gall stones (50%)

Question 4

Diagnosis of hereditary spherocytosis

Answer 4

FBC + blood film
Normocytic normochromic + increased reticulocytes
Spherocytes (lack of central pallor & smaller than RBCs)

Question 5

Treatment of hereditary spherocytosis

Answer 5

Splenectomy (decrease extravascular haemolysis) - wait till at least 6 years old due to sepsis risk - spleen fights off encapsulated bacteria

(+folate supps + transfusion)

Question 6

Treatment for neonatal jaundice
What is there a risk of in neonatal jaundice?

Answer 6

Phototherapy
Kernicterus if untreated (bilirubin in basal ganglia , CNS dysfunction + death)