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[Gene Mutation Types and Ethnic Distribution Characteristic of Thalassemia in Guiyang]
Fang Wang1, Ru-Yi Zhang2, Dong-Yang Deng2
1Graduate School of Guizhou University of Traditional Chinese Medicine,Guiyang 550002，Guizhou Province, China.
Insights
Thalassemia gene mutations are diverse in Guiyang, with -α3.7/αα being the most common alpha-thalassemia genotype and CD17 (A→T) the most frequent beta-thalassemia genotype. The Buyi ethnic group shows a higher thalassemia carrier rate, necessitating ongoing monitoring and public awareness campaigns.
Area of Science:
- Medical Genetics
- Hematology
- Population Genetics
Background:
- Thalassemia is a group of inherited blood disorders.
- Understanding genetic mutations and ethnic distribution is crucial for public health strategies.
Purpose of the Study:
- To investigate the genetic mutation types of thalassemia in Guiyang.
- To determine the ethnic distribution characteristics of thalassemia carriers in Guiyang.
Main Methods:
- A total of 4,572 individuals were screened for thalassemia gene mutations.
- Real-time PCR (RDB-PCR) was utilized for genetic analysis.
- Data was collected from physical, antenatal, and pre-pregnancy examinations.
Main Results:
- The overall thalassemia carrier rate was 7.57% (346/4572).
- -α3.7/αα was the most prevalent alpha-thalassemia genotype (52.82%), and CD17 (A→T) was the most common beta-thalassemia genotype (51.65%).
- The Buyi nationality exhibited a higher carrier rate compared to other ethnic groups.
Conclusions:
- Guiyang presents a complex spectrum of thalassemia gene mutations.
- Targeted screening and awareness programs are recommended, particularly for high-risk ethnic groups like the Buyi.
- Regular monitoring and public education are essential for thalassemia control.
Objective:
To investigate the genetic mutation types and ethnic distribution characteristics of thalassemia in Guiyang.
Methods:
The population underwent physical examination, antenatal examination and pre-pregnancy examination in our hospital from January 2019 to November 2019 was selected, and the thalassemia gene was detected by RDB-PCR.
Results:
Among the 4 572 samples, 346 were positive , and the total carrying rate was 7.57%. The carrying rate of α-thalassaemia gene was 5.42% (248 cases), while β-thalassemia was 1.99% (91 cases), and α+β-compound thalassemia was 0.15% (7 cases). α-thalassaemia genotype with the lack of right side -α3.7/αα (52.82%) was the most common, followed by -SEA/αα (25.00%) and -α4.2/αα (10.48%). β-thalassemia genotype was mainly CD17 (A→T) (51.65%), followed by CD41-42 (-TCTT) (25.27%) and IVS-2-654 (C→T) (12.09%). One case of rare αα/αααanti3.7 and one case of rare HBB:c.-153C>A (-103 C>A) mutation were detected. Among the 346 positive samples, 264 were from the Han nationality and 82 from the ethnic minorities, among which Buyi nationality accounted for the most (35.80%), followed by Miao nationality (20.54%).
Conclusion:
The gene types of thalassemia in Guiyang are complex and varied. The -α3.7/αα is the most common genotype of α-thalassemia, while CD17 (A→T) (51.65%) is the most common genotype of β-thalassemia. The carrying rate of thalassemia in the Buyi nationality is higher than other nations, it is necessary to carry out regular monitoring and publicity.
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