Clinical and hematological features of beta(+)-thalassemia (IVS-1 nt 5, G-C mutation) in Thai patients.
Seventy-eight patients with IVS-1 nt 5, G-C, which is the common mutation of beta+-thalassemia found in the southern part of Thailand, were studied to determine whether it is possible to predict phenotypic severity from genetic factors. The clinical phenotype of homozygotes for IVS-1 nt 5, G-C and compound heterozygotes for IVS-1 nt 5, G-C and beta(0) - or beta(+)-thalassemia were variable and could not be accurately predicted. The associations between concomittant alpha-thalassemia or Hb CS or the presence of XmnI-Ggamma polymorphism and a mild clinical phenotype are not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.
Laosombat
V
V
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkla, Thailand. lvichai@ratree.psu.ac.th
Wongchanchailert
M
M
Sattayasevana
B
B
Wiriyasateinkul
A
A
Fucharoen
S
S
D000293:Adolescent; D017398:Alternative Splicing; D002648:Child; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006453:Hemoglobinopathies / Q000150:complications / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012720:Severity of Illness Index; D013785:Thailand / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000208:ethnology / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; C035541:Hemoglobin Constant Spring; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific