19.05.2023 | Scientific Letter
Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population
verfasst von:
Arati Nandan Saptarshi, Tejashree A. More, Rashmi Dongerdiye, Prabhakar Kedar
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 8/2023
Einloggen, um Zugang zu erhalten
Excerpt
To the Editor: Congenital dyserythropoietic anemia (CDA) type II is the most common among other types of CDAs. It is inherited in an autosomal recessive pattern and caused due to mutations in the
SEC23B gene [
1]. Patients show moderate to severe anemia, variable transfusion requirement, icterus, pallor, hepatosplenomegaly, morphological abnormalities in the bone marrow. The gold standard for diagnosis is light and electron microscopic observation of bone marrow [
2]. The molecular characterization gives a confirmed diagnosis. There are many reports of CDAII globally. However, only a few patients have been reported in the Indian population based on bone marrow morphological analysis [
3]. …