Abstract

CONGENITAL DYSERYTHROPOIETIC ANEMIA (TYPE 2) – CASE REPORT OF A RARE HEMATOLOGICAL DISORDER

Dr. Sunderesh Kamal Chander U., Dr. Neelayadakshi B.*, Dr. Niveditha E. N., Dr. Evelyn Elizabeth Ebenezer and Dr. Muthuvel E.

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Abstract

Congenital dyserythropoietic anemia (CDA) comprise a heterogeneous group of rare inhereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. Three types of CDA are known: types 1, 2 and 3. The genes responsible for types 1 and 2 have recently been identified as CDAN1 and SEC3B. The wide variety of phenotypes observed in these patients makes the diagnosis difficult; identification of the genetic variants is crucial in differential diagnosis and clinical management. We reported a 19 year old male visited medicine department with complaints of easy fatiguability and joint pain involving bilateral knee. On systemic examination hepatosplenomegaly was present. On hematological examination show a classical bone-marrow picture with binucleated erythroblasts and Ham’s test was positive. Hence we diagnosed it as a case of Congenital Dyserythropoietic anemia - type II.

Keywords: Congenital Dyserythropoietic anemia, peripheral blood smear, bone marrow aspiration, binucleated erythroblasts and Ham’s test.