Molecular basis of beta-thalassemia minor in Taiwan.
The mutations producing beta-thalassemia minor in 227 Taiwanese were studied using the method of naturally and amplified created restriction sites. beta-Thalassemia minor was caused by one beta-globin gene mutation in most of the cases (225/227); only a few cases were caused by two gene mutation (2/227). The most common type of mutation was frameshift codon 41/42 (-TCTT) (93/227), followed in descending order by the C-->T substitution at nucleotide 654 of IVS-2 (83/227), the nonsense mutation A--T at codon 17 (22/227), the A-->T mutation at position -28 of the promotor region (12/227), the frameshift codon 27/28 (+C) (6/227), the initial codon mutation (ATG-->AGG) (5/227), and one each of the codon 71/72 (+A), IVS-1 nt 1 (G-->T), IVS-1 3' end (TAG-->GAG), and nonsense codon 43. In the two cases of the two-gene mutation, one was the nt 654 mutation with Hb Kaohsiung and another one was frameshift codon 41/42 with Hb Meinung. The first four mutations accounted for more than 90% of the mutations. The C-->T substitution at the nt 654 of IVS-2 and initial codon mutation in our study had a higher incidence than in other Southeast Asia areas. Comparison of clinical data in different types of beta-thalassemia showed that there were higher MCV and MCH levels in beta (+)-thalassemia.
Chang
J G
JG
Department of Molecular Medicine and Clinical Pathology, Taipei Municipal Jen-Ai Hospital, Taiwan.
Lin
C P
CP
Liu
T C
TC
Chiou
S S
SS
Chen
P H
PH
Lee
L S
LS
Chen
T P
TP
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013624:Taiwan; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins