Characterization of a novel deletion causing (deltabeta)0-thalassemia in a Thai family.
A novel deletion of the human beta-globin gene cluster associated with the increased level of fetal hemoglobin (Hb F) in adult life has been demonstrated in a Thai family. A Thai girl who was mistakenly diagnosed as beta-thalassemia/HbE is found to be the compound heterozygote of this mutation and Hb E. The heterozygous father had mild hypochromic and microcytic red blood cells and a high level of Hb F (23.2%). Polymorphic restriction sites in the beta-globin gene cluster identified the homozygous alleles, which localized the deletion region between the psibeta-globin and the 3' beta-globin genes. DNA polymerase that can amplify a long DNA template was employed to examine DNA fragment encompassing this deletion. A 11.3 kilobases (kb) of DNA deletion, beginning approximately 3.1 kb 5' to the delta-globin gene and end in the intron 2 of the beta-globin gene was detected. DNA analysis revealed that this is a case of (deltabeta)(0)-thalassemia with a novel mutation, which can lead to a mild form of beta-thalassemia upon interaction with Hb E.
Svasti
Saovaros
S
Thalassemia Research Center, Institute of Science and Technology for Research and Development, Mahidol University, Salaya, Nakornpathom, Thailand.
Paksua
Surachate
S
Nuchprayoon
Issarang
I
Winichagoon
Pranee
P
Fucharoen
Suthat
S
D000328:Adult; D000483:Alleles; D044466:Asian People; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000172:deficiency*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D005810:Multigene Family; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D013785:Thailand; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin