Abstract | OBJECTIVE: METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of Gγ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing. RESULTS: All patients have presented hypochromic microcytic anemia and hemoglobin fraction with significant increased measurement (30.5%-59.2%) in the region of fetal hemoglobin during alkaline medium electrophoresis. DNA analysis suggested that all patients have carried mutations leading to the unstable hemoglobin Rush (HBB codon 101, GAG>CAG, Glu>Gln). Two of them were compound heterozygotes of Hb Rush and thalassemia mutations of -α 3.7,CD17 and Hb E, respectively. Hb Rush mutation was associated with various haplotypes of the β- globin gene cluster. No significant association was found between increased abnormal hemoglobin fraction in the region of Hb F and the polymorphism of Gγ promoter or large deletion of the beta-globin gene cluster. CONCLUSION:
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Authors | Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 34
Issue 1
Pg. 15-20
(Feb 10 2017)
ISSN: 1003-9406 [Print] China |
PMID | 28186586
(Publication Type: Journal Article)
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Chemical References |
- Hemoglobin Rush
- Hemoglobins, Abnormal
- alpha-Globins
- beta-Globins
- Fetal Hemoglobin
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Topics |
- Adult
- Base Sequence
- Blood Protein Electrophoresis
(methods)
- Female
- Fetal Hemoglobin
(genetics, metabolism)
- Genotype
- Haplotypes
- Hemoglobins, Abnormal
(genetics, metabolism)
- Heterozygote
- Humans
- Infant
- Mutation
- Phenotype
- Polymorphism, Genetic
- Sequence Analysis, DNA
(methods)
- Thalassemia
(blood, diagnosis, genetics)
- Young Adult
- alpha-Globins
(genetics, metabolism)
- beta-Globins
(genetics, metabolism)
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