Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.

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.
PMID: 29936674 [PubMed - as supplied by publisher]

Source: International Journal of Hematology - June 23, 2018 Category: Hematology Authors: Hamada M, Doisaki S, Okuno Y, Muramatsu H, Hama A, Kawashima N, Narita A, Nishio N, Yoshida K, Kanno H, Manabe A, Taga T, Takahashi Y, Miyano S, Ogawa S, Kojima S Tags: Int J Hematol Source Type: research