The prevalence and molecular characterization of (뫧)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population.
J Clin Lab Anal
; 32(3)2018 Mar.
Article
em En
| MEDLINE
| ID: mdl-28763119
ABSTRACT
OBJECTIVE:
To reveal the prevalence and molecular characterization of (뫧)0 -thalassemia [(뫧)0 -thal] and hereditary persistence of fetal hemoglobin (HPFH) in the Chinese Zhuang population.METHODS:
A total of 105 subjects with fetal hemoglobin (Hb F) level ≥5% from 14 204 unrelated ones were selected for the study. Multiplex ligation dependent probe amplification was firstly used to analyze dosage changes of the ß-globin gene cluster for associated with (δß)0 -thal and HPFH mutations. The gap polymerase chain reaction was then performed to identify the deletions using the respective flanking primers. Hematologic data were recorded and correlated with the molecular findings.RESULTS:
Twenty-one (0.15%) subjects were diagnosed with Chinese G γ(A γδß)0 -thal. Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA-HPFH) deletion. Seventy-five (0.53%) cases remained uncharacterized. Three genotypes for Chinese G γ(A γδß)0 -thal and SEA-HPFH deletion were identified, respectively. The genotype-phenotype relationships were discussed.CONCLUSION:
Our study for the first time demonstrated that (δß)0 and HPFH were not rare events, and molecular characterized G γ(A γδß)0 -thal and HFPH mutations in the Chinese Zhuang population. The findings in our study will be useful in genetic counseling and prenatal diagnostic service of ß-thalassemia in this populations.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobina Fetal
/
Talassemia beta
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Povo Asiático
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Talassemia delta
Tipo de estudo:
Prevalence_studies
/
Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Clin Lab Anal
Assunto da revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
China