The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
<h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters....
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-01-01
|
| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24587075/pdf/?tool=EBI |
| _version_ | 1818389057539932160 |
|---|---|
| author | Aihua Yin Bing Li Mingyong Luo Longchang Xu Li Wu Liang Zhang Yuanzhu Ma Tingting Chen Shuang Gao Juqing Liang Hao Guo Danqing Qin Jicheng Wang Tenglong Yuan Yixia Wang Wei-wei Huang Wen-Fei He Yanxia Zhang Chang Liu Sujian Xia Qingshan Chen Qingguo Zhao Xiaozhuang Zhang |
| author_facet | Aihua Yin Bing Li Mingyong Luo Longchang Xu Li Wu Liang Zhang Yuanzhu Ma Tingting Chen Shuang Gao Juqing Liang Hao Guo Danqing Qin Jicheng Wang Tenglong Yuan Yixia Wang Wei-wei Huang Wen-Fei He Yanxia Zhang Chang Liu Sujian Xia Qingshan Chen Qingguo Zhao Xiaozhuang Zhang |
| author_sort | Aihua Yin |
| collection | DOAJ |
| description | <h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.<h4>Results</h4>A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.<h4>Conclusions</h4>There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province. |
| first_indexed | 2024-12-14T04:35:41Z |
| format | Article |
| id | doaj.art-4e4891b5d23b4106bbfcb799039fa66a |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-14T04:35:41Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-4e4891b5d23b4106bbfcb799039fa66a2022-12-21T23:16:58ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0192e8985510.1371/journal.pone.0089855The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.Aihua YinBing LiMingyong LuoLongchang XuLi WuLiang ZhangYuanzhu MaTingting ChenShuang GaoJuqing LiangHao GuoDanqing QinJicheng WangTenglong YuanYixia WangWei-wei HuangWen-Fei HeYanxia ZhangChang LiuSujian XiaQingshan ChenQingguo ZhaoXiaozhuang Zhang<h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.<h4>Results</h4>A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.<h4>Conclusions</h4>There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24587075/pdf/?tool=EBI |
| spellingShingle | Aihua Yin Bing Li Mingyong Luo Longchang Xu Li Wu Liang Zhang Yuanzhu Ma Tingting Chen Shuang Gao Juqing Liang Hao Guo Danqing Qin Jicheng Wang Tenglong Yuan Yixia Wang Wei-wei Huang Wen-Fei He Yanxia Zhang Chang Liu Sujian Xia Qingshan Chen Qingguo Zhao Xiaozhuang Zhang The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. PLoS ONE |
| title | The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. |
| title_full | The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. |
| title_fullStr | The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. |
| title_full_unstemmed | The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. |
| title_short | The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China. |
| title_sort | prevalence and molecular spectrum of α and β globin gene mutations in 14 332 families of guangdong province china |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24587075/pdf/?tool=EBI |
| work_keys_str_mv | AT aihuayin theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT bingli theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT mingyongluo theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT longchangxu theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT liwu theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT liangzhang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yuanzhuma theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT tingtingchen theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT shuanggao theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT juqingliang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT haoguo theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT danqingqin theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT jichengwang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT tenglongyuan theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yixiawang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT weiweihuang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT wenfeihe theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yanxiazhang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT changliu theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT sujianxia theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT qingshanchen theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT qingguozhao theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT xiaozhuangzhang theprevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT aihuayin prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT bingli prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT mingyongluo prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT longchangxu prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT liwu prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT liangzhang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yuanzhuma prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT tingtingchen prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT shuanggao prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT juqingliang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT haoguo prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT danqingqin prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT jichengwang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT tenglongyuan prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yixiawang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT weiweihuang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT wenfeihe prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT yanxiazhang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT changliu prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT sujianxia prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT qingshanchen prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT qingguozhao prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina AT xiaozhuangzhang prevalenceandmolecularspectrumofaandbglobingenemutationsin14332familiesofguangdongprovincechina |