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[Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China].
- Source :
-
Zhongguo shi yan xue ye xue za zhi [Zhongguo Shi Yan Xue Ye Xue Za Zhi] 2023 Dec; Vol. 31 (6), pp. 1804-1810. - Publication Year :
- 2023
-
Abstract
- Objective: To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi.<br />Methods: Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia.<br />Results: A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for -- <superscript>SEA</superscript> , followed by 5.70% for -α <superscript>3.7</superscript> , and 0.24% for -- <superscript>Thai</superscript> . Among 32 α-thalassemia genotypes, the most common five were -- <superscript>SEA</superscript> /αα, -α <superscript>3.7</superscript> /αα, α <superscript>CS</superscript> α/αα, -α <superscript>4.2</superscript> /αα and α <superscript>WS</superscript> α/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for -- <superscript>Thai</superscript> /αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42 , followed by 2.55% for CD17 , and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N , CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N , accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42 /CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were -- <superscript>SEA</superscript> /αα, -α <superscript>3.7</superscript> /αα combining CD41-42/N and -- <superscript>SEA</superscript> /αα combining CD17/N , accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of -- <superscript>SEA</superscript> /-α <superscript>3.7</superscript> combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α <superscript>3.7</superscript> /αα combining CD41-42 / CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of α <superscript>WS</superscript> α/αα combining CD41-42 /CD17 (Hb: 79 g/L) and 1 case of -- <superscript>SEA</superscript> /αα combining CD17/-28 (Hb: 46 g/L) were detected with history.<br />Conclusions: The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is -- <superscript>SEA</superscript> /αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype -- <superscript>Thai</superscript> is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.
Details
- Language :
- Chinese
- ISSN :
- 1009-2137
- Volume :
- 31
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Zhongguo shi yan xue ye xue za zhi
- Publication Type :
- Academic Journal
- Accession number :
- 38071064
- Full Text :
- https://doi.org/10.19746/j.cnki.issn.1009-2137.2023.06.031