Hereditary spherocytosis with preserved eosin-5-maleimide binding

Hereditary spherocytosis (HS) is a common congenital hemolytic anemia caused by genetic mutations affecting red blood cell (RBC) membrane proteins and is usually inherited in an autosomal dominant manner. The diagnosis of HS is based on clinical and laboratory features, but traditional diagnostic methods have limitations in sensitivity and specificity. This study presents the clinical course and diagnostic challenges of a 16-year-old girl with HS complicated by vitamin B12 deficiency. She presented with a one-month history of dyspnea, pallor, jaundice, and hepatosplenomegaly, with signs of cardiac failure. Initial investigations revealed severe anemia with a few spherocytes and macro-ovalocytes on a peripheral smear. Despite a negative eosin-5-maleimide (EMA) binding test, due to the presence of spherocytes, an elevated mean corpuscular hemoglobin concentration (MCHC), and a strong family history, raised the suspicion of HS. Genetic mutation analysis confirmed Ankyrin 1 (ANK-1) gene mutation, consistent with HS. The patient was concurrently diagnosed with vitamin B12 deficiency, which had exacerbated the anemia. This case highlights the diagnostic challenges in hereditary spherocytosis, particularly when associated with nutritional deficiencies. Early diagnosis and appropriate management, including genetic testing and nutritional supplementation, are critical for optimal patient outcomes.