You Position: Home > Paper

Molecular genetic characteristics of a family which coinheritance of rare-88 C>G ( HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature

( views:0, downloads:0 )
Author:
No author available
Journal Title:
Chinese Journal of Preventive Medicine
Issue:
2
DOI:
10.3760/cma.j.cn112150-20220818-00823
Key Word:
β地中海贫血;出生缺陷;人类遗传学;家系;-88 C>G( HBB; c.-138 C>G)突变 ;β-thalassemia;Congenital abnormalities;Human genetics;Pedigree;-88 C>G( HBB;c.-138 C>G)mutation

Abstract: The molecular genetic characteristics of a family with rare -88 C>G ( HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children′s Hospital Managed by Shanghai Children′s Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑ wsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G ( HBB: c.-138 C>G) heterozygous mutation (β -88 C>G/β N). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G( HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.

  • This article has no references!
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn