title: Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease.
abstract: beta-Thalassemia/Hb E patients show a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. This study investigated the clinical heterogeneity and hematologic parameters obtained in the large cohort of 925 Thai beta 0-thalassemia/Hb E patients. Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia. The mean steady-state Hb was also higher, whereas the mean corpuscular volume and the percentage of Hb F were markedly lower in the former group. This finding demonstrates that the genetic combination leading to the more/less degree of alpha- to non-alpha-globin chains imbalance is indeed the cause of the severe/mild thalassemia phenotype.
authors.affiliation: Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom, 73170, Thailand.
authors.forename: Orapan
authors.initials: O
authors.lastname: Sripichai
authors.forename: Thongperm
authors.initials: T
authors.lastname: Munkongdee
authors.forename: Chutima
authors.initials: C
authors.lastname: Kumkhaek
authors.forename: Saovaros
authors.initials: S
authors.lastname: Svasti
authors.forename: Pranee
authors.initials: P
authors.lastname: Winichagoon
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics*; D005838:Genotype; D005914:Globins / Q000235:genetics* / Q000378:metabolism; D006446:Hemoglobin E / Q000378:metabolism*; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017085:alpha-Thalassemia / Q000235:genetics / Q000503:physiopathology; D017086:beta-Thalassemia / Q000145:classification / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D005914:Globins; D006446:Hemoglobin E