A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia

Myelodysplastic syndromes (MDS) are a heterogeneous category of myeloid neoplasms that represent the most common class of acquired bone marrow failure syndromes in adults. MDS is typically associated with a hypoproliferative macrocytic anemia, but atypical findings on initial diagnostic evaluations can raise concern for a distinct pathophysiological process and lead to the investigation of alternative etiologies. Here, we report a case of MDS with a concomitant hypoproliferative microcytic and hypochromic anemia that led to the identification of acquired hemoglobin H due to a novel somatic ATRX mutation.

Source: Cancer Genetics and Cytogenetics - January 9, 2019 Category: Genetics & Stem Cells Authors: Jedrzej Wykretowicz, Yeohan Song, Brooke McKnight, Sung Won Choi, John Magenau, Radhika Takiar, Paul El Tomb, David Ginsburg, Dale Bixby, Rami Khoriaty Tags: Case Report Source Type: research