CONGENITAL DYSERYTHROPOETIC ANAEMIA TYPE–I (CDA–I) – A CASE REPORT

Dr.Khundrakpam Sunitarani Devi; Dr. L. Sushila Devi

Volume : VII, Issue : VII, July - 2017

CONGENITAL DYSERYTHROPOETIC ANAEMIA TYPE–I (CDA–I) – A CASE REPORT

Dr. Khundrakpam Sunitarani Devi, Dr. L. Sushila Devi

Abstract :

Ø Congenital dyserythropoeitic anaemia type–1 is a rare autosomal recessive disorder characterized by macrocytic anaemia , megaloblastoid erythroid hyperplasia with dyserythropoeisis, distinctive nuclear abnormalities in the erythroblast , decreased reticulocyte count for the degree of anaemia and transfusion dependency of varying degree. In a few instances, somatic malformations have been described . Cholelithiasis may also be associated with this condition. Etiology of CDA–1 is not fully understood but most cases have been associated with mutation in the CDAN1 gene (15q15.2) . Here we report a case of CDA– 1 in a male child of 3yrs presenting with fever and loose motion of 2weeks duration at JNIMS, Porompat. On clinical examination , severe pallor, hepatospleenomegaly, mild jaundice and mild frontal bossing are present. Blood picture show pancytopenia, increased MCV, macrocytosis, basophilic stippling and moderate anisopoikilocytosis. Bone–marrow examination reveals erythroid hyperplasia with megaloblastoid changes , features of dyserythropoeisis , binuclearity and trinuclearity , internuclear chromatin idges, double nucleated with different nuclear size and increased iron store . The laboratory findings are increased unconjugated bilirubin , increased serum ferritin , increased urinary urobilinogen and negative acidified serum test. Treatment consists of blood transfusion and iron chelation , interferon therapy, spleenectomy and B.M transplant on individual patient basis.