Contributions
Abstract: PB2504
Type: Publication Only
Background
Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, Middle East and Mediterranean. Thalassemia is usually thought to exist only in southern China, but more and more cases from northern China have been reported recently.
Aims
We compared gene spectrum of α and β-thalassemia in northern and southern China in our group, and compared our data with the largest meta-analysis in southern China, and data from Southeast Asian countries. The results may help to understand the similarities and differences of people from different area and different ethnic groups.
Methods
During 2012 to 2017, suspected thalassemia people were detected for common α and β-thalassemia mutations by gap-PCR and reverse dot blot (RDB) analysis in Peking Union Medical College hospital (PUMCH). 1059 people who carried thalassemia genes were analyzed retrospectively. We picked mutated individuals with northern identity card numbers and conducted telephone follow-up survey in order to collect their ancestral information. Besides, we used ‘thalassemia’, ‘mutation’, and Southeast Asian countries as keywords to search potential related studies in PubMed and EMbase.
Results
All carriers included in our study resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although significant difference was found between our data and data from the meta-analysis literature of southern China in both α and β-thalassemia, we also found some similarities between them. Similar gene mutation spectrum were found between Malaysia Chinese and Guangdong people, while other ethnic people in Southeast Asia had totally different gene spectrum from that of Chinese people.
Conclusion
Chinese People originated from north may have lower percentage of α-thalassemia mutations. Chinese people in different area had similar gene mutation profile and Chinese people had significantly different gene spectrum from other ethnic people in Southeast Asia.
Session topic: 28. Thalassemias
Keyword(s): Mutation, Thalassemia
Abstract: PB2504
Type: Publication Only
Background
Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, Middle East and Mediterranean. Thalassemia is usually thought to exist only in southern China, but more and more cases from northern China have been reported recently.
Aims
We compared gene spectrum of α and β-thalassemia in northern and southern China in our group, and compared our data with the largest meta-analysis in southern China, and data from Southeast Asian countries. The results may help to understand the similarities and differences of people from different area and different ethnic groups.
Methods
During 2012 to 2017, suspected thalassemia people were detected for common α and β-thalassemia mutations by gap-PCR and reverse dot blot (RDB) analysis in Peking Union Medical College hospital (PUMCH). 1059 people who carried thalassemia genes were analyzed retrospectively. We picked mutated individuals with northern identity card numbers and conducted telephone follow-up survey in order to collect their ancestral information. Besides, we used ‘thalassemia’, ‘mutation’, and Southeast Asian countries as keywords to search potential related studies in PubMed and EMbase.
Results
All carriers included in our study resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although significant difference was found between our data and data from the meta-analysis literature of southern China in both α and β-thalassemia, we also found some similarities between them. Similar gene mutation spectrum were found between Malaysia Chinese and Guangdong people, while other ethnic people in Southeast Asia had totally different gene spectrum from that of Chinese people.
Conclusion
Chinese People originated from north may have lower percentage of α-thalassemia mutations. Chinese people in different area had similar gene mutation profile and Chinese people had significantly different gene spectrum from other ethnic people in Southeast Asia.
Session topic: 28. Thalassemias
Keyword(s): Mutation, Thalassemia