Ressearch progress of α-Thalassemia mental retardation X-linked gene mutation of acquired α- Thalassemia myelodystic syndrome

Abstract

Alpha-thalassemia is a common inherited form of anemia that usually results from dysfunction of the chromosome 16. Acquired alpha-thalassemia associated with somatic mutation in alpha-thalassemia mental retardation X-linked (ATRX) gene has been found in patients who develop neoplastic myeloid disorders, especially myelodystic syndrome(MDS). So it is called acquired alpha-thalassemia myelodystic syndrome(ATMDS). A majority of researches suggested the protein encoded by ATRX gene functions as a trans-acting factor regulates expression of α-globin. Summarizing studies on function of ATRX protein, such as chromatin remodeler and gene regulation, we elucidate the association among ATRX gene, ATRX protein and α-globin in the development of ATMDS. It helps us explain ATMDS symptoms in terms of molecular mechanisms. Key words: Myelodystic syndromes; Alpha-globins; Alpha-Thalassemia; Mutation