title: The expanding spectrum of thalassemia intermedia.
abstract: The hemoglobin disorders serve as a model for study of the genetic heterogeneity underlying the phenotype of genetic disorders. 'Thalassemia intermedia' is a clinical phenotype which displays marked genotypic variability in different populations or ethnic groups. Two common underlying mechanisms include co-inheritance of alpha globin gene deletions in homozygous thalassemia intermedia and presence of XmnI polymorphism. The newly described mechanisms including unstable hemoglobin disorders and somatic deletions in beta-globin gene are elaborated in the present review.
authors: Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh-12, India. inupan@yahoo.com
authors: Inusha
authors: I
authors: Panigrahi
authors: Ram K
authors: RK
authors: Marwaha
authors: Ketan
authors: K
authors: Kulkarni
mesh_terms: D017353:Gene Deletion; D006801:Humans; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*; D055542:alpha-Globins / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins