Chea M1*, Badens C2, Brun S1, Gris JC1 and Jourdan E3
1Department of Hematology, Nîmes University Hospital, University of Montpellier, France
2Medical School, UMR_S910, Aix-Marseille University, Medical Genetics, Biological Resource Center – Tissue, DNA, Cells, La Timone Children's Hospital, Marseille, Francev
3Department of Clinical Hematology, CHU Nîmes, France
Acquired a-Thalassemia Myelodysplastic Syndrome (ATMDS) is a very rare form of acquired thalassemia defined by a down-regulation of α globin synthesis in a myelodysplastic context. Herein we present the case of an 87-year-old man with myelodysplastic syndrome and a progressive microcytic anemia highlighted during his biological check-ups carried out over the years. Eventually, a rare ATRX gene mutation on exon 35 leading to a premature stop codon (p.R2407*) is found confirming that carboxyl domain deletion is tightly linked to ATMDS phenotype. Moreover, this case provides further support that EPO long term treatment seems to work well with MDS presenting ATRX mutation, but larger studies need to be conducted on MDS patient cohort to evaluate the impact of these mutations on disease evolution and prognosis.
ATMDS; ATRX; Microcytosis
Chea M, Badens C, Brun S, Gris JC, Jourdan E. Q-Box Region Deletion of the ATRX Gene is Linked to Acquired α-Thalassemia Myelodysplastic Syndrome (ATMDS). Clin Oncol. 2022;7:1928..