Abstract:
: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.
journal_name
Int J Hematoljournal_title
International journal of hematologyauthors
Chang JG,Lin CP,Liu TC,Chiou SS,Chen PH,Lee LS,Chen TPsubject
Has Abstractpub_date
1994-06-01 00:00:00pages
267-72issue
4eissn
0925-5710issn
1865-3774journal_volume
59pub_type
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journal_title:International journal of hematology
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