Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population

Peng LI; Wei YI; Jie ZHANG; Yangjia ZHANG; Shijun GE

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Peng LI, Wei YI, Jie ZHANG, Yangjia ZHANG, Shijun GE. Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population[J]. Journal of Kunming Medical University.

Citation:

Peng LI, Wei YI, Jie ZHANG, Yangjia ZHANG, Shijun GE. Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population[J]. Journal of Kunming Medical University.

Peng LI, Wei YI, Jie ZHANG, Yangjia ZHANG, Shijun GE. Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population[J]. Journal of Kunming Medical University.

Citation:

Peng LI, Wei YI, Jie ZHANG, Yangjia ZHANG, Shijun GE. Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population[J]. Journal of Kunming Medical University.

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Analysis of Thalassemia Gene Screening and Diagnosis Results in the Dehong Population

Peng LI¹,
Wei YI²,
Jie ZHANG³,
Yangjia ZHANG^{3
,
,},
Shijun GE^{2
,
,}

1.
Medical Laboratory Department，The Third People’s Hospital of Yunnan Province，Kunming Yunnan 650011
2.
Department of Clinical Laboratory Examination，People’s Hospital of Dehong Prefecture，Mangshi Yunnan 678400
3.
Dept. of Medical Genetics，The First People’s Hospital of Yunnan Province，Kunming Yunnan 650032，China

Abstract

Abstract

Objective To clarify the carrier rate and mutation spectrum of thalassemia genes in the population in Dehong Prefecture, Yunnan Province, thereby providing a scientific basis for developing precise thalassemia prevention and control strategies in this region. Methods A total of 6946 samples were screened and diagnosed for α-thalassemia and β-thalassemia using genetic screening and diagnostic techniques. The carrier status of thalassemia genes in the population was statistically analyzed. Results Among the 6946 samples, 1880 tested positive for thalassemia genes, yielding a positive rate of 27.07% （1880/6946）. This study detected a total of 1174 α-thalassemia positive samples, with a positive rate of 16.90% （1174/6946）. Among the mutation types, -α^3.7/αα was identified as the predominant genotype. There were 493 β-thalassemia positive samples, with a positive rate of 7.10% （493/6, 946）. Among the mutation types, CD26 was the most predominant mutation type. The differences in carrier rates between α-thalassemia and β-thalassemia was statistically significant （P < 0.05）. Additionally, 213 samples were positive for both α-thalassemia and β-thalassemia （compound carriers）, with a positive rate of 3.07% （213/6946）. There were also 207 intermediate thalassemia positive samples, with a positive rate of 2.98% （207/6946）. Among these, the -α^3.7/--^SEA genotype was the most predominant . Conclusion Dehong region is a high-prevalence area for thalassemia carriers, with a relatively high positive rate for thalassemia. The most common gene mutation type was -α^3.7/αα and CD26.
- Thalassemia,
- Genetic diagnosis,
- Genetic counseling

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References(19)

References

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