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

Nabhajit Mallik1, Namrata Singh1, Manu Jamwal1

  • 1Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.

Cancer Genetics
|July 31, 2021
PubMed

A 60-year-old male with myelodysplastic syndrome with excess blasts-1 had unexplained microcytic hypochromic anemia. The cause of his anemia was revealed on supravital staining, hemoglobin studies and next-generation sequencing to be a novel hemizygous potentially pathogenic missense/splice site variant NM_000489.5:c.6848A>C, (p.Lys2283Thr) in exon 31 of the ATRX gene.

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