α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0/βCD17‑thalassemia mutation: A case report

Qian,Hou; Li,Weifeng; Lin,Xiuhua; Xu,Ji; Zhang,Xiaoli; Zhao,Weihua; Wu,Yike; Liu,Wenlan

doi:10.3892/mmr.2023.12999

α‑thalassemia deletion [‑^SEA (Southeast Asian)] and a compound heterozygote for the Chinese ^Gγ⁺(^Aγδβ)⁰/β^CD17‑thalassemia mutation: A case report

Authors:
- Hou Qian
- Weifeng Li
- Xiuhua Lin
- Ji Xu
- Xiaoli Zhang
- Weihua Zhao
- Yike Wu
- Wenlan Liu
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Affiliations: The Center for Medical Genetics and Molecular Diagnosis, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China, The Center for Medical Genetics and Molecular Diagnosis, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China, Prenatal Diagnosis Center, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China
Published online on: April 18, 2023 https://doi.org/10.3892/mmr.2023.12999
Article Number: 112

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Abstract

In the present study, an α‑thalassemia deletion [‑^SEA (Southeast Asian)] and a compound heterozygote for the Chinese ^Gγ⁺(^Aγδβ)⁰/β^CD17‑thalassemia mutation in a 15‑year‑old girl was identified by gap‑PCR, PCR‑reverse dot‑blot hybridization and multiplex ligation‑dependent probe amplification. Molecular analysis indicated that the proband's father carried a hemoglobin subunit β (HBB) heterozygous mutation in codon 17 (CD17; c.52A>T), the mother was a double heterozygous carrier of the Chinese ^Gγ⁺(^Aγδβ)⁰‑thalassemia mutation combined with an ‑^SEA deletion, and the proband inherited both mutations from her mother and father, thus carrying the Chinese ^Gγ⁺(^Aγδβ)⁰/β^CD17‑thalassemia combined with the‑^SEA deletion in a compound heterozygous state. The proband was diagnosed as severe thalassemia intermedia and experienced a clinical phenotype aggravation (severe anemia and splenomegaly) from no obvious clinical symptoms to being dependent on monthly blood transfusions.

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1	Martin A and Thompson AA: Thalassemias. Pediatr Clin North Am. 60:1383–1391. 2013. View Article : Google Scholar : PubMed/NCBI
2	He S, Li J, Li DM, Yi S, Lu X, Luo Y, Liang Y, Feng C, Chen B, Zheng C and Qiu X: Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China. Gene. 655:61–64. 2018. View Article : Google Scholar : PubMed/NCBI
3	Cao A and Galanello R: Beta-thalassemia. Genet Med. 12:61–76. 2010. View Article : Google Scholar : PubMed/NCBI
4	Galanello R, Sanna S, Perseu L, Sollaino MC, Satta S, Lai ME, Barella S, Uda M, Usala G, Abecasis GR and Cao A: Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood. 114:3935–3937. 2009. View Article : Google Scholar : PubMed/NCBI
5	Panyasai S, Fucharoen S, Surapot S, Fucharoen G and Sanchaisuriya K: Molecular basis and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in Thailand. Haematologica. 89:777–781. 2004.PubMed/NCBI
6	Zeng YT, Huang SZ, Chen B, Liang YC, Chang ZM, Harano T and Huisman TH: Hereditary persistence of fetal hemoglobin or (delta beta)o-thalassemia: three types observed in South-Chinese families. Blood. 66:1430–1435. 1985. View Article : Google Scholar : PubMed/NCBI
7	Chen W, Zhang X, Shang X, Cai R, Li L, Zhou T, Sun M, Xiong F and Xu X: The molecular basis of beta-thalassemia intermedia in southern China: Genotypic heterogeneity and phenotypic diversity. BMC Med Genet. 11:312010. View Article : Google Scholar : PubMed/NCBI
8	So CC, So AC, Chan AY, Tsang ST, Ma ES and Chan LC: Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification. J Clin Pathol. 62:1107–1111. 2009. View Article : Google Scholar : PubMed/NCBI
9	Zhang JW, Song WF, Zhao YJ, Wu GY, Qiu ZM, Wang FN, Chen SS and Stamatoyannopoulos G: Molecular characterization of a novel form of (A gamma delta beta)zero thalassemia deletion in a Chinese family. Blood. 81:1624–1629. 1993. View Article : Google Scholar : PubMed/NCBI
10	Zhuang J, Jiang Y, Wang Y, Zheng Y, Zhuang Q, Wang J and Zeng S: Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China. J Clin Pathol. 73:278–282. 2020. View Article : Google Scholar : PubMed/NCBI
11	Mann JR, MacNeish AS, Bannister D, Clegg JB, Wood WG and Weatherall DJ: δβ-thalassemia in a chinese famiIy. Br J Haematol. 23:393–402. 1972. View Article : Google Scholar : PubMed/NCBI
12	Peng CT, Liu SC, Chiou SS, Kuo PL, Shih MC, Chang JY and Chang JG: Molecular characterization of deletional forms of beta-thalassemia in Taiwan. Ann Hematol. 82:33–36. 2003. View Article : Google Scholar : PubMed/NCBI
13	Tan Jin Ai MA, Yap SF, Tan KL, Wong YC, Wee YC and Kok JL: Mild beta-thalassemia intermedia caused by compound heterozygosity for (G)gamma((A)gammadeltabeta)(o)/beta-thalassemia and molecular characterization of the defect in four Chinese families. Acta Haematol. 109:169–175. 2003. View Article : Google Scholar : PubMed/NCBI
14	Wu Y, Yao Q, Zhong M, Wu J, Xie L, Su L and Yu F: Genetic research and clinical analysis of deletional Chinese ^Gγ⁺(^Aγδβ)°-thalassemia and Southeast Asian HPFH in South China. Ann Hematol. 99:2747–2753. 2020. View Article : Google Scholar : PubMed/NCBI
15	He S, Wei Y, Lin L, Chen Q, Yi S, Zuo Y, Wei H, Zheng C, Chen B and Qiu X: The prevalence and molecular characterization of (δβ)° -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population. J Clin Lab Anal. 32:e223042018. View Article : Google Scholar : PubMed/NCBI
16	Cai WJ, Li J, Xie XM and Li DZ: Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F. Int J Lab Hematol. 37:752–757. 2015. View Article : Google Scholar : PubMed/NCBI
17	Craig JE, Barnetson RA, Prior J, Raven JL and Thein SL: Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 83:1673–1682. 1994. View Article : Google Scholar : PubMed/NCBI
18	Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, Chen PY, Lu JP, Jia SQ, Xiao GF, Shen X, et al: The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: Implications for the future health burden and population screening. J Clin Pathol. 57:517–522. 2004. View Article : Google Scholar : PubMed/NCBI
19	Du L, QD, Wang JC, et al: Analysis and prenatal diagnosis of 5 families with 813-thalassemia. J Mol Diagn Ther. 7:27–32. 2015.
20	Chen M, Zhang M, Chen L, Lin N, Wang Y, Xu L and Huang H: Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience. J Clin Lab Anal. 36:e241812022.PubMed/NCBI
21	Liang HF, Liang WM, Xie WG, Lin F, Liu LL, Li LJ, Ge YY, Lu M, Liao YW, Zeng GK, et al: The gene spectrum of thalassemia in Yangjiang of western Guangdong Province. Front Genet. 14:11260992023. View Article : Google Scholar : PubMed/NCBI
22	Taher AT, Radwan A and Viprakasit V: When to consider transfusion therapy for patients with non-transfusion-dependent thalassaemia. Vox Sang. 108:1–10. 2015. View Article : Google Scholar : PubMed/NCBI
23	Weatherall DJ: The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 26 (Suppl 1):S3–S6. 2012. View Article : Google Scholar : PubMed/NCBI