1. Congenital dyserythropoietic anaemia type I with nails and bone abnormalities.
- Author
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García‐Zamora, E., Naz‐Villalba, E., Pampín‐Franco, A., García‐Iñigo, F. J., and López‐Estebaranz, J. L.
- Subjects
BONES ,NAIL diseases ,ANEMIA ,HUMAN abnormalities - Abstract
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]
- Published
- 2020
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