The expanding spectrum of thalassemia intermedia.
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.
Panigrahi
Inusha
I
Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh-12, India. inupan@yahoo.com
Marwaha
Ram K
RK
Kulkarni
Ketan
K
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*
D055542:alpha-Globins; D055544:beta-Globins