LAUSR

Dear Editor, Congenital dyserythropoietic anemias are rare inherited disorders characterized by a reduced reticulocyte production and hyperplasia in bone marrow [1, 2]. The anemia and hyperbilirubinemia are usually observed in childhood and young adults. Anisocytosis, poikilocytosis, and basophilic stippling is detected in the peripheral blood smear. The clinical presentation in these patients could lead to misdiagnosis such as hemolytic anemia, thalassemia, hereditary spherocytosis, or iron deficiency anemia, and as consequence, to inappropriate therapies. The clinical and biochemical suspect of CDA II is confirmed most commonly by the presence of biallelic mutations in the SEC23B gene, inherited in an autosomal recessive manner [3, 4]. More than 86 causative mutations in 142 independent pedigrees have been described so far (http://www. biobase-international.com), [5]. However, the prevalence of the CDA II is probably underestimated, since its clinical spectrum was not yet well-defined and thus it is often misdiagnosed with more frequent clinically related anemias [6–8]. 10-year-old girl belonging to the Dhangar community from a remote village in a Usmanabad district of Maharashtra in India visited the Hematology OPD at KEM Hospital, Mumbai, for anemia with complaints of weakness and yellowish discoloration of the eyes since early childhood with history of multiple transfusion (16 times up to the age of 10 years) (Fig. 1a). She also had exertional breathlessness and easy fatigability. She was born out of a consanguineous marriage. Her siblings were normal, with no other family history. On examination, she had severe pallor, deep icterus with lemon yellow tinge, and mild changes of hemolytic facies. Abdominal examination showed mild hepatomegaly and moderate splenomegaly. With the provisional diagnosis of chronic hemolytic anemia, the case was referred to our research center for further workup. With informed consent, blood samples were obtained from affected patients. Whenever possible, relatives were investigated. The diagnosis was based on history, clinical findings, laboratory routine data, peripheral blood smear, bone marrow analysis, evidence of abnormal band 3 upon sodium dodecyl sulfate poly acrylamide gel electrophoresis (SDS-PAGE), and genetic testing. The blood cell count data of this patient were indicative of decreased red blood cells, hemoglobin (Hb), and hematocrit (HCT), increased red distribution width (RDW), and inadequate reticulocytes; other parameters were within the normal range. Per ipheral blood smear showed anisopoikilocytosis, few spherocytes, mild polychromasia, two nucleated RBCs/100 WBCs, and hypochromasia of mild degree. The autoimmune hemolytic anemia was excluded as the direct Coomb’s test was negative. Liver function tests represented unconjugated hyperbilirubinemia. The hemoglobin electrophoresis test was normal. The tests for red cell enzymes such as G6PD, PK, and GPI were normal. Flow cytometric eosin-5-maleimide (EMA) dye binding test revealed low MCF suggesting red cell membrane protein defect (Fig. 1b) [9]. Osmotic fragility was * Prabhakar Kedar [email protected]