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.
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.
[Full Text Article]