Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of haematology"
DOI: 10.1111/ejh.13974
Abstract: This is the first reported case describing the clinical and laboratory features of a patient with co-inherited heterozygous haemoglobin Lepore and a congenital dyserythropoietic anaemia. Furthermore, we report a novel biallelic mutation in the CDAN1… read more here.
Keywords: heterozygous haemoglobin; congenital dyserythropoietic; dyserythropoietic anaemia; haemoglobin lepore ... See more keywords
SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
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DOI: 10.1136/bcr-2022-251092
Abstract: We report a case of congenital dyserythropoietic anaemia (CDA) type II in a female child, which is an extremely rare cause of hereditary anaemia. The patient, still in her early childhood, presented to us with… read more here.
Keywords: congenital dyserythropoietic; dyserythropoietic anaemia; missense mutation; anaemia ... See more keywords