Case report illustrates hereditary elliptocytosis causing recurrent anemia in infant, highlighting diagnostic importance.
Hereditary elliptocytosis (HE) is a genetic disorder of the red blood cell membrane leading to chronic hemolytic anemia. It is under-recognized as a cause of anemia in Nigerian infants. We report the case of a 6 month old male Nigerian infant presenting with recurrent pallor over 3 months, necessitating five prior blood transfusions at the Pediatric Emergency Unit of Efeturi's Lifeline Hospital, Osogbo, Nigeria. Physical examination revealed severe pallor and a tachycardia of 160 beats/min. Investigations conducted revealed a packed cell volume of 22% and a peripheral blood film showing numerous elliptocytes and poikilocytes. Anemia was managed with packed cell transfusion, and the patient was discharged and followed up monthly. This case underscores the role of peripheral blood morphology in diagnosing HE even in private practice in resource-limited settings. It illustrates the substantial burden of recurrent, transfusion-dependent anemia caused by HE in infancy and highlights the need for improved access to diagnostic and long-term care for chronic hematological disorders in this region.
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Agelebe et al. (2026) studied this question.
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