부산대학교 도서관

Congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorders characterized by ineffective erythropoiesis, the characteristic morphology of erythroid precursors and the development of secondary haemochromatosis.[1] Patients with CDA present variable grades of hyporegenerative anaemia with inadequate reticulocyte values and variable intensity of haemolysis. Skeletal abnormalities (acral dysostosis) affecting distal limbs are a rare feature observed in about 10% of patients with CDA Type I. Nail plate hypoplasia, absent nails and/or syndactyly in a patient with anaemia, can be the clue to suspect CDA. CPD questions Learning objective To gain up-to-date knowledge on the nail and skeletal abnormalities in patients with congenital dyserythropoietic anaemia. [Extracted from the article]