Gene Screening and Result Analysis of 2 376 Cases of Thalassemia

Yun-juan WANG; Yan-liang ZHANG; Qiu-yue XU; Ying ZHAO; Zhao-wu HU; Yang SU

doi:10.12259/j.issn.2095-610X.S20210130

Volume 42 Issue 1

Jan. 2021

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Yun-juan WANG, Yan-liang ZHANG, Qiu-yue XU, Ying ZHAO, Zhao-wu HU, Yang SU. Gene Screening and Result Analysis of 2 376 Cases of Thalassemia[J]. Journal of Kunming Medical University, 2021, 42(1): 68-71. doi: 10.12259/j.issn.2095-610X.S20210130

Citation:

Yun-juan WANG, Yan-liang ZHANG, Qiu-yue XU, Ying ZHAO, Zhao-wu HU, Yang SU. Gene Screening and Result Analysis of 2 376 Cases of Thalassemia[J]. Journal of Kunming Medical University, 2021, 42(1): 68-71. doi: 10.12259/j.issn.2095-610X.S20210130

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Gene Screening and Result Analysis of 2 376 Cases of Thalassemia

doi: 10.12259/j.issn.2095-610X.S20210130

Yun-juan WANG^{1, 2, 3},
Yan-liang ZHANG^{1, 2, 3},
Qiu-yue XU^{1, 2, 3},
Ying ZHAO^{1, 2, 3},
Zhao-wu HU⁴,
Yang SU^{1, 2, 3
,
,}

1.
Dept. of Clinical Laboratory，The 1st Affiliated Hospital of Kunming Medical University
2.
Yunnan Institute of Experimental Diagnosis
3.
Yunnan Key Laboratory of Laborotory Medicine，Kunming 650032
4.
Dept. of Clinical Laboratory，People’s Hospital of Lufeng County，Lufeng Yunnan 651200, China

Received Date: 2020-07-23
Available Online: 2021-01-26
Publish Date: 2021-01-26

Abstract

Abstract

Objective To investigate the positive rate, gene mutation type and distribution characteristics of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University. Methods A retrospective analysis was made on 2376 cases of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University from April 1, 2017 to December 31, 2018. The parameters of thalassemia gene and blood cell analysis (Hb, MCV, MCH, RDW) were statistically analyzed. Results （1） Among 2376 cases of thalassemia gene screening, 817 were positive for thalassemia gene, the positive rate was 34.39%, of which 392 cases were positive for α thalassemia gene, accounting for 47.98% of the total positive samples; 398 were positive samples of βthalassemia gene, accounting for 48.71% of the total positive samples; 27 cases were αβcompound thalassemia gene positive samples, accounting for 3.30% of the total positive samples. （2） 392 positive samples of αthalassemia gene were αα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2 and -α3.7/--SEA genotypes, accounting for 50.51%, 32.91%, 4.34%, 3.57% and 2.55%, respectively; CD26, CD41-42, CD17, IVS II654, nt28 genotypes were the main positive samples of β thalassemia gene, accounting for 25.38%, 23.37%, 20.60%, 20.60% and 3.27% of thalassemia gene. Conclusion The incidence rate of thalassemia in Yunnan is still high, of which CD26 is the largest in beta thalassemia, which is totally different from that in other provinces and cities in China.
- Thalassemia,
- Gene mutation type,
- Screening

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References(15)

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