ArticleInternational journal of hematology2018
Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.
Article in International journal of hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea.Journal of Korean medical science · 2024Review
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.Advances in experimental medicine and biology · 2024Review
- The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.HemaSphere · 2022Article
- Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.Human genome variation · 2020Article
- Exome sequencing for diagnosis of congenital hemolytic anemia.Orphanet journal of rare diseases · 2020Article
- Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias.Frontiers in physiology · 2020Review
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Authors and funding
16 authors at 7 institutions in 1 country.
Funding
Abstract
Congenital dyserythropoietic anemia (CDA) is a heterogeneous group of rare congenital disorders characterized by ineffective erythropoiesis and dysplastic changes in erythroblasts. Diagnosis of CDA is based primarily on the morphology of bone marrow erythroblasts; however, genetic tests have recently become more important. Here, we performed genetic analysis of 10 Japanese patients who had been diagnosed with CDA based on laboratory findings and morphological characteristics. We examined 10 CDA patients via central review of bone marrow morphology and genetic analysis for congenital bone marrow failure syndromes. Sanger sequencing for CDAN1, SEC23B, and KLF1 was performed for all patients. We performed whole-exome sequencing in patients without mutation in these genes. Three patients carried pathogenic CDAN1 mutations, whereas no SEC23B mutations were identified in our cohort. WES unexpectedly identified gene mutations known to cause congenital hemolytic anemia in two patients: canonical G6PD p.Val394Leu mutation and SPTA1 p.Arg28His mutation. Comprehensive genetic analysis is warranted for more effective diagnosis of patients with suspected CDA.
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