Beta-thalassemia major caused by compound heterozygosity for +40 to +43(-AAAC), IVS-2-654 (C to T) and codon 41/42 (-TCTT).
- Author:
Zhao-hui HU
1
;
Yuan-li LIU
;
Zheng-yu ZENG
;
Xiao-lu ZHANG
;
Qing-yi ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Codon; DNA Mutational Analysis; Female; Genetic Carrier Screening; Haplotypes; Heterozygote; Humans; Mutation; Nucleic Acid Hybridization; beta-Thalassemia; genetics
- From: Chinese Journal of Medical Genetics 2008;25(4):418-420
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese.
METHODSUsing PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to identify the underlying causative mutation.
RESULTSReverse dot blot (RDB) analysis showed that the patient's beta-globin gene had three mutations: +40 to +43(-AAAC), CD41/42(-TCTT) and IVS-2-654(C to T). Beta-globin gene cloning and sequencing proved that, the two deletions of +40 to +43(-AAAC) and CD41/42(-TCTT) co-existed on the same chromosome, and the other homologous chromosome had an IVS-2-654 (C to T) mutation. So the patient is a compound heterozygote of [+40 to +43(-AAAC)*CD41/42 (-TCTT)]/IVS-2-654 (C to T) leading to beta-thalassemia major.
CONCLUSIONThe triple mutation of [+40 to +43(-AAAC)*CD41/42(-TCTT)/N] is a new genotype of beta-thalassemia in Chinese.
