Congenital Dyserythropoietic Anemia Masquerading as Hereditary Spherocytosis

Abstract

BackgroundCongenital Dyserythropoietic Anemias (CDA) type II is a rare hereditary chronic hemolytic anemia due to defect in the SEC23B gene which shows varying degrees of ineffective erythropoiesis and is often misdiagnosed as RBC membranopathy or enzymopathy. CASE REPORTA five-year-old boy was admitted with increasing paleness for one month. Examination revealed pallor, icterus, and hepatosplenomegaly. Based on the peripheral blood smear findings, increased osmotic fragility of RBCs and a suggestive Eosin-5’-maleimide (EMA) binding test, the initial diagnosis was hereditary spherocytosis. However, the bone marrow aspirate suggested an uncommon diagnosis of CDA which was confirmed by next-generation sequencing (NGS) that revealed a SEC23B-Y462C homozygous mutation in exon 12 suggestive of CDA type II. ConclusionCDAs are often underdiagnosed since the morphological abnormalities and clinical features resemble other hemolytic anemias. In this case, we showed our approach to diagnosis highlight the meticulous interpretation of the laboratory investigations and a timely bone marrow examination.