Congenital dyserythropoietic anemia type IV with kruppel-like factor 1 E325K mutation in a preterm neonate: Case and literature review

Abstract

Background: Clinical, pathologic, and genetic heterogeneity is a challenge in identifying and classifying congenital dyserythropoietic anemia (CDA). CDA type IV, the rarest CDA with only 11 reported cases, results from KLF1 gene mutation. Clinical Description: A male preterm neonate presented with jaundice, anemia, pulmonary hypertension and hepatosplenomegaly in the immediate postnatal period, requiring multiple red blood cell transfusions. Management and Outcome: The workup for non-immune haemolytic anemia including red blood cell structural and enzymatic studies and were normal, with peripheral blood smear showing multiple polychromatic cells and numerous nucleated red blood cells including binucleate ones and fetal haemoglobin of 91.2%. Genetic testing revealed KLF1 E325K mutation suggestive of CDA type IV, though parental testing was normal, suggesting de novo mutation. The infant has been receiving packed RBC transfusion every three to four weeks initially and then every two months. The baby is now of twelve months of age, and receives oral vitamin B12 and folic acid supplementation for ineffective erythropoiesis. Though his weight is in the 3rd centile for age and height, he has been developmentally normal. Conclusions: Our report, the first description of a CDA type IV diagnosis in the neonatal period, adds to the limited knowledge of this disorder, which we also comprehensively review. The report highlights the phenotype of the disorder and the importance of neonatal genetic testing in a case of transfusion dependent anemia, having ruled out other causes.

Keywords

• congenital dyserythropoietic anemia
• congenital dyserythropoietic anemia type iv
• kruppel-like factor 1 mutation; neonate