A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1

A 60-year-old male with myelodysplastic syndrome with excess blasts-I had unexplained microcytic hypochromic anemia. This was revealed on supravital staining, hemoglobin studies and next-generation sequencing to be caused by a novel hemizygous potentially pathogenic missense/splice site variant NM_000489.5:c.6848A>C, (p.Lys2283Thr) in exon 31 of the ATRX gene.

Source: Cancer Genetics and Cytogenetics - July 19, 2021 Category: Genetics & Stem Cells Authors: Nabhajit Mallik, Namrata Singh, Manu Jamwal, Sanjeev Chhabra, Jasbir Kaur Hira, Pankaj Malhotra, Reena Das, Prashant Sharma Tags: Case Reports for Cancer Curation Source Type: research