Genetic Screening of Thalassemia among the Couples of Childbearing Age in Ding'an County of Hainan Province and Its Analysis.
10.19746/j.cnki.issn.1009-2137.2019.05.035
- Author:
Zhi-Hua TU
1
;
Jie WANG
2
;
Jia-Jia HU
1
;
Li-Qiang ZHAO
1
;
Hai-Ling RAN
1
;
An-Guo WANG
1
;
Ye-Juan LI
1
;
Ning MA
1
;
Zhong WU
1
;
Zhi ZHOU
3
Author Information
1. Reproductive Medical Center, Maternal and Child Health Care Hospital of Hainan Province, Haikou 570206，Hainan Province, China.
2. Department of Clinical Laboratial Examination, Maternal and Child Health Care Hospital of Hainan Province, Haikou 570206，Hainan Province, China.
3. Reproductive Medical Center, Maternal and Child Health Care Hospital of Hainan Province, Haikou 570206，Hainan Province, China,E-mail: 620008829@qq.com.
- Publication Type:Journal Article
- MeSH:
Erythrocyte Indices;
Genetic Testing;
Heterozygote;
Humans;
alpha-Thalassemia;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2019;27(5):1592-1595
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the gene-carrying rate and genetic types of thalassemia among the couples of child-bearing age in Ding'an, Hainan province.
METHODS:A total of 1742 couples at child bearing age in the region were screened for thalassemia by detecting the mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV). If the sample data of either spouse of couples was tested as MCV＜82 fl and /or MCH＜27 pg, both samples of the couple would be further assayed by hemoglobin electrophoresis. Those samples of HbA2 2.5 % or HbA2＞3.5 % were judged as positive in the preliminary screening, then subjected to genetic diagnosis of thalassemia.
RESULTS:478 cases out of 1 742 couples of child bearing age were diagnosed as thalassemia gene mutation, and the gene-carrying rate was 13.72 %. In those carriers, 42 couples were diagnosed with the same type of thalassemia, accounting for 3.67 %. The gene-carrying rate of α-thalassemia, β-thalassemia and αβ-thalassemia was 9.56%, 3.10% and 1.06 % respectively.
CONCLUSION:The Ding'an area in Hainan Province is an area with high incidence of thalassemia, and the main genotype is α-thalassemia, showing a distribution of local characteristics. The government should make efferts to popularise the screening for thalassemia, so as to effectively prevent the birth of children with thalassemia major.
