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  • Title: Molecular basis of beta-thalassemia minor in Taiwan.
    Author: Chang JG, Lin CP, Liu TC, Chiou SS, Chen PH, Lee LS, Chen TP.
    Journal: Int J Hematol; 1994 Jun; 59(4):267-72. PubMed ID: 8086620.
    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.
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