De novo and acquired forms of alpha thalassemia.
Alpha thalassemia is a genetic disorder of hemoglobin production that typically is inherited in an autosomal co-dominant fashion. Rare forms of alpha-thalassemia, however, occur as de novo or acquired disorders. These disorders occur in two clinical situations: 1) alpha-thalassemia associated with mental retardation, and 2) acquired alpha-thalassemia (HbH disease) associated with myelodysplastic syndrome. Study of these rare disorders has led to the identification and characterization of a gene on the X chromosome (called ATRX) that encodes a trans-acting factor capable of influencing the expression of alpha-globin and other genes.
Hematology Section, Yale University School of Medicine, PO Box 208021, New Haven, CT 06520-8021, USA. bernard.forget@yale.edu
Bernard G
BG
Forget
D004265:DNA Helicases / Q000235:genetics*; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000209:etiology / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D013577:Syndrome; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
D009687:Nuclear Proteins; D005914:Globins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein