Abstract

Introduction: Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Due to defective cell membrane, red cells are spherical shaped and result in their early lysis. Osmotic fragility of spherocytic red cell is increased.
 Case report: A 22 year old female presented with chief complain of abdominal pain. Initially she was diagnosed as cholelithiasis. Under laboratory evaluation she was found to be anemic with reticulocytosis. In peripheral blood smear, spherocytes were moderately distributed. Antihuman globulin test was negative but osmotic fragility was high. Hence, she was confirmed as case of hereditary spherocytosis.
 Conclusion: Hereditary spherocytosis is a rare red cell disorder and its diagnosis can be made by osmotic fragility test.

Highlights

  • Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia

  • On basis of the clinical and laboratory investigations, the patient was diagnosed as having hereditary spherocytosis

  • [3] About 20 - 30% of Hereditary spherocytosis (HS) are mild and patients are usually asymptomatic with mild splenomegaly, mild reticulocytosis, and few spherocytes in peripheral blood smear

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Summary

INTRODUCTION

Hereditary spherocytosis (HS) is an inherited red cell membrane disorder causing hemolytic anemia. Hospital with the chief complain of abdominal pain She had yellowish discoloration of skin at the time of presentation. Laboratory investigation showed hemoglobin (Hb) of 9.5 g/dl with normal total white blood cell (WBC) and platelet counts. Biochemical investigation showed an increased total bilirubin of 3.5 mg/dl and direct bilirubin of 0.9 mg/dl while other liver function parameters like alkaline phosphatase (ALP), aspartate transaminase (AST), and alanine transaminase (ALT) were normal. Koju S. et al Hereditary Spherocytosis: A Case Report moderately distributed (Figure 1). Osmotic fragility test was markedly increased as compared to that of normal healthy individual (Figure 2). On basis of the clinical and laboratory investigations, the patient was diagnosed as having hereditary spherocytosis.

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