Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease.
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.
Sripichai
Orapan
O
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Phutthamonthon, Nakhonpathom, 73170, Thailand.
Munkongdee
Thongperm
T
Kumkhaek
Chutima
C
Svasti
Saovaros
S
Winichagoon
Pranee
P
Fucharoen
Suthat
S
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*
D005914:Globins; D006446:Hemoglobin E