Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations
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DOI: 10.1007/s00277-017-3116-5
Abstract: Dear Editor, Congenital dyserythropoietic anemias are rare inherited disorders characterized by a reduced reticulocyte production and hyperplasia in bone marrow [1, 2]. The anemia and hyperbilirubinemia are usually observed in childhood and young adults. Anisocytosis,… read more here.
Keywords: anemia; hematology; hereditary spherocytosis; blood ... See more keywords
Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation
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DOI: 10.1007/s00277-019-03848-y
Abstract: Dear Editor, Congenital dyserythropoietic anemia is a rare hematologic disease and frequently misdiagnosed [1]. Here we report a case of congenital anemia with the bone marrow mimicking myelodysplasia syndrome. The case is finally diagnosed as… read more here.
Keywords: mimicking myelodysplasia; anemia; hematology; test ... See more keywords
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity
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DOI: 10.1097/mph.0000000000001056
Abstract: Supplemental Digital Content is available in the text. read more here.
Keywords: anemia type; klf1 e325k; e325k associated; associated congenital ... See more keywords
Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis
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DOI: 10.1111/ejh.12931
Abstract: Congenital dyserythropoietic anemias are rare blood disorders characterized by congenital anemia and a wide range of morphological and functional abnormalities of erythroid precursors. read more here.
Keywords: features congenital; microscopy; morphological features; dyserythropoietic anemia ... See more keywords
Treatment of transfusion‐dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha‐2a
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DOI: 10.1111/ejh.13428
Abstract: Pegylated IFN‐α2a has been reported in two case reports as being efficacious in treating CDA‐I patients. This study aims to assess its efficacy on a series of CDA‐I patients. read more here.
Keywords: treatment transfusion; anemia type; dependent congenital; transfusion dependent ... See more keywords
Benign clinical phenotype of co-inherited congenital dyserythropoietic anaemia type I and heterozygous haemoglobin Lepore.
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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
Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)
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DOI: 10.1182/blood-2019-128975
Abstract: Congenital dyserythropoietic anemias (CDA) are rare hereditary diseases of abnormal erythropoiesis. The CDA Registry of North America (CDAR) (NCT02964494) was opened in 2016 to investigate the natural history and molecular biology of CDA. CDA type… read more here.
Keywords: anemia; cda; dyserythropoietic anemia; cdan1 mutations ... See more keywords
Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II
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DOI: 10.3324/haematol.2022.281481
Abstract: Congenital dyserythropoietic anemias belong to a group of rare/very rare inherited conditions characterized by a matu-ration arrest during erythropoiesis with reduced reticulocyte production, which contrasts with the erythroid hyperplasia in the bone marrow. All these… read more here.
Keywords: anemia type; congenital dyserythropoietic; dyserythropoietic anemia; cytology ... See more keywords
An EHPB1L1 Nonsense Mutation Associated with Congenital Dyserythropoietic Anemia and Polymyopathy in Labrador Retriever Littermates
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DOI: 10.3390/genes13081427
Abstract: In this report, we describe a novel genetic basis for congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates characterized by incidental detection of marked microcytosis, inappropriate metarubricytosis, pelvic limb weakness and muscle atrophy. A… read more here.
Keywords: anemia polymyopathy; labrador retriever; congenital dyserythropoietic; retriever littermates ... See more keywords