The mutations producing beta-thalassemia minor in 227 Taiwanese were s
tudied using the method of naturally an amplified created restriction
sites. Beta-Thalassemia minor was caused by one beta-globin gene mutat
ion in most of the cases (225/227); only a few cases were caused by tw
o gene mutation (2/227). The most common type of mutation was frameshi
ft 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 mu
tation 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) (6/22
7), the initial codon mutation (ATG-->AGG) (5/227), and one each of th
e 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 c
odon 41/42 with Hb Meinung. The first four mutations accounted for mor
e than 90% of the mutations. The C-->T substitution at the nt 654 of I
VS-2 and initial codon mutation in our study had a higher incidence th
an in other Southeast Asia areas. Comparison of clinical data in diffe
rent types of beta-thalassemia showed that there were higher MCV and M
CH levels in beta+-thalassemia.