1. [Acquired alpha-thalassemia in an 86-year-old patient with myelodysplastic syndrome].
- Author
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Cortese D, Martinez C, Dindoyal A, Alamome I, Dragan R, Chapiro J, Blaison G, and Hinschberger O
- Subjects
- Male, Humans, Aged, 80 and over, X-linked Nuclear Protein genetics, Mutation, alpha-Thalassemia complications, alpha-Thalassemia diagnosis, Myelodysplastic Syndromes complications, Myelodysplastic Syndromes diagnosis, Myelodysplastic Syndromes genetics
- Abstract
Background: Alpha thalassemia-myelodysplastic syndrome (ATMDS) is one of the possible complications related to the genetic instability typical of clonal hemopoietic disorders such as myelodysplastic syndromes (MDS). Hemoglobin H acquisition, which is hemoglobin without alpha chains and with 4 beta chains is the hallmark of this disease., Observation: An 86-year-old male with chronic, microcytic anemia was referred due to a fall in his hemoglobin level. The blood smear was remarkable for intense anisocytoses and poikilocytosis. Bone marrow analysis was followed by a diagnosis of MDS with a good prognostic score. Peripheral blood coloration with brilliant cresyl blue showed "golf ball-like" erythrocytes. Hemoglobin electrophoresis is notable for the presence of H hemoglobin. The new generation sequencing confirmed the diagnosis of ATMDS showing a non-sense mutation in the gene ATRX., Conclusion: The diagnosis of ATMDS should be considered in the presence of the association of MDS, microcytic anemia and marked blood smear abnormalities such as anisocytosis and poikilocytosis. A little less than 10% of all MDS are complicated by ATMDS., (Copyright © 2022 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2023
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