HEREDITARY SPHEROCYTOSIS

Pediatric Surgery

Hereditary spherocytosis is a clinically heterogenous autosomal dominant red blood cell membrane disorder that causes anemia. The genetic defect results in deficiency of spectrin, the largest and most abundant structural protein of the erythrocyte membrane skeleton. The affected RBC loses its biconcave shape, strength and flexibility to the stress of circulation, becomes round and is trapped and destructs early in the spleen. Initial symptoms are those of pallor, jaundice and chronic anemia, followed by splenomegaly. Hemolytic crises are triggered by intercurrent infections. Pigment gallstones are common after the first decade of life. Labs' findings are those of many spherocytes in the peripheral smear, 8-10 mg% hemoglobin, elevated reticulocyte count, increase erythropoiesis in the bone marrow, and negative Coomb's test. Erythrocytes' shows increased osmotic fragility with autohemolysis in hypotonic solutions. Definitive therapy consists of splenectomy. This condition is the most common indication for elective splenectomy in children. The risk of overwhelming postsplenectomy sepsis makes it advisable to delay splenectomy until after six years of age unless the child becomes transfusion dependent. At the time of splenectomy, it is important to identify and remove accessory spleens. If gallstones are present, cholecystectomy should be done. A low content of spectrin and high percentage of microcyte has been used as determinants of early splenectomy as judge by the clinical severity of the disease process. Howell-Jolly bodies in erythrocyte are identified after total splenectomy.

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