Hereditary Spherocytosis

by
DR. Mubashir Rashid
Introduction

 It is an autosomal dominant disease characterized by a heredity defect in red

blood cell membrane that makes them spherical less deformable and vulnerable to
splenic sequestration and destruction. It is often diagnosed in childhood milder
cases may be discovered incidentally late in adult life.
Clinical Features
 Asymptomatic (due to compensatory increase in bone marrow function) to anemia
(aplastic crises) when bone marrow is temporarily impaired by infection.
 Jaundice in episodes jaundice at birth or delayed for many years.
 Spleen may be palpable due to congestion.
 Hemolytic crises increased hemolysis due to jaundice, splenomegaly and anemia.
 Aplastic crises complete cessation of marrow function due to infection specially
parvovirus.
 Megaloblastic crises folic acid deficiency due to increased consumption as a result
of hyperactivity of the marrow.
 There is liability to form pigment gall stone due to chronic hemolysis.
 Leg ulcers sometimes occur.
Investigations

 Anemia-mild.
 Blood film shows spherocytes and reticulocytes.
 Serum bilirubin and urinary urobilinogen are raised (evidence of hemolysis).
 Osmotic fragility test: When red blood cells are placed in solution of increasing
hypotonicity they take in water swell and eventually lyse.
 Spherocytosis rupture early then the normal then the normal cells due to defect in
cell membrane.
Management

 Splenectomy ( because spleen is the site of cell distruction under following

conditions.
 Anemia causes persistent impairment of health.
 Severe hemolytic crises.
 Presence of gallstones.
 In case of hemolysis blood transfusion can be a temporary cure.
 Folic acid intake daily at least 5mg for a long period of time or may be for life
time.