Hereditary Spherocytosis in a 17 year girl: A case report
Abstract
Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminate haemolytic anaemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. Seventeen years old girl presented with mild anaemia, jaundice and moderate splenomegaly. Her haematological parameters supported diagnosis of hereditary spherocytosis. Appropriate treatment was started with an advice to patient to undergo splenectomy as an active part of management of the disorder. Mother and other siblings were normal.
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Introduction
Hereditary spherocytosis (HS) is a rare inherited red blood cell (RBC) membrane disorder that is characterized by spherically shaped RBCs on peripheral blood smear1, 2, 3 . Hereditary spherocytosis was first described in 1871. 4 T
The exact data is not available but it seems quite uncommon in India. The incidence is 1:4500 in Caucasians2, 3 (North Africa, West Asia, and Europe). It is inherited as autosomal dominant but approximately 25% of cases are discovered in persons who have no family history of HS; these cases may represent spontaneous mutations or recessive forms of the disease. 4
Splenectomy almost cures anemia but should be deferred till 5 to 6 years of age due to fear of fulminant sepsis. 1, 2, 3 This case is reported in view of the rarity of this disorder in India and it is hoped that this report will bring increase awareness on the existence of HS and hence an increase index of suspicion to avoid unnecessary use of blood transfusion
Conclusion
Although HS is rare it does occur in our environment and when suspected haematological assessment is necessary to avoid diagnostic pitfalls and mismanagement.