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Hemoglobin
international journal for hemoglobin research
Volume 47, 2023 - Issue 2
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Original Articles

A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype

Ju Longa Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR China;b School of Basic Medical Sciences, Xi’an Jiaotong University Health Science Center, Xi’an, Shaanxi, ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-3171-4992View further author information
ORCID Icon,
Feifei Gonga Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR ChinaView further author information
,
Lei Suna Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR China;b School of Basic Medical Sciences, Xi’an Jiaotong University Health Science Center, Xi’an, Shaanxi, ChinaView further author information
,
Chunhui Yua Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, PR ChinaView further author information
&
Enqi Liub School of Basic Medical Sciences, Xi’an Jiaotong University Health Science Center, Xi’an, Shaanxi, ChinaCorrespondence[email protected]
View further author information
Pages 25-30 | Received 04 Oct 2022, Accepted 11 Feb 2023, Published online: 17 May 2023

References

  • Angastiniotis M, Lobitz S. Thalassemias: an overview. Int J Neonatal Screen. 2019;5(1):16.
  • Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
  • Taher AT, Musallam KM, Cappellini MD. β-Thalassemias. N Engl J Med. 2021;384(8):727–743.
  • Munkongdee T, Chen P, Winichagoon P, et al. Update in laboratory diagnosis of thalassemia. Front Mol Biosci. 2020;7:74.
  • Hui PW, Pang P, Tang MH. 20 years review of antenatal diagnosis of haemoglobin Bart’s disease and treatment with intrauterine transfusion. Prenatal Diagnosis. 2022;42(9):1155–1161.
  • Luo S, Chen X, Chen L, et al. Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease. Expert Rev Hematol. 2020;13(9):1027–1033.
  • Musallam KM, Bou-Fakhredin R, Cappellini MD, et al. 2021 update on clinical trials in β‐thalassemia. Am J Hematol. 2021;96(11):1518–1531.
  • Viprakasit V, Ekwattanakit S. Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am. 2018;32(2):193–211.
  • Xu A, Chen W, Xie W, et al. Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population. Clin Chem Lab Med. 2020;59(1):227–232.
  • Vijian D, Ab Rahman WSW, Ponnuraj KT, et al. Molecular detection of α Thalassemia: a review of prevalent techniques. Medeni Med J. 2021;36(3):257.
  • Long J, Sun L, Gong F, et al. Third-generation sequencing: a novel tool detects complex variants in the α-thalassemia gene. Gene. 2022;2022:146332.
  • Long J, Yan S, Lao K, et al. The diagnosis and molecular analysis of a novel 21.9 kb deletion (Qinzhou type deletion) causing α+ thalassemia. Blood Cells Mol Dis. 2014;52(4):225–229.
  • Long J, Liu E. Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population. Ann Hum Genet. 2022;86(2):63–70.
  • Pang W, Sun L, Long J, et al. Identification of the− α2. 4 deletion in one family and in One Hb H disease patient in Guangxi, People’s Republic of China. Hemoglobin. 2016;40(3):194–197.
  • Zhang Q, Xu M, Zhou W, et al. α+-Thalassemia caused by an 811 bp deletion in individuals from Nanning, Guangxi: a report of two cases. Hemoglobin. 2017;41(3):185–188.
  • Luo S, Chen X, Zhong Q, et al. Analysis of rare thalassemia caused by HS-40 regulatory site deletion. Hematology. 2020;25(1):286–291.
  • Shang X, Peng Z, Ye Y, et al. Rapid targeted next-generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. EBioMedicine. 2017;23:150–159.
  • Long J, Liu E. The carriage rates of αααanti3. 7, αααanti4. 2, and HKαα in the population of Guangxi, China measured using a rapid detection qPCR system to determine CNV in the α-globin gene cluster. Gene. 2021;768:145296.
  • Aliyeva G, Asadov C, Mammadova T, et al. Thalassemia in the laboratory: pearls, pitfalls, and promises. Clin Chem Lab Med. 2019;57(2):165–174.
  • Jiang H, Liu S, Zhang Y-L, et al. Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome. Hemoglobin. 2015;39(2):102–106.
  • Pang D, Shang X, Cai D, et al. Thalassaemia intermedia caused by coinheritance of a β‐thalassaemia mutation and a de novo duplication of α‐globin genes in the paternal allele. Br J Haematol. 2019;186(4):620–624.
  • Ropero P, González FA, Nieto JM, et al. β-Thalassemia intermedia: interaction of α-Globin gene triplication with β-thalassemia heterozygous in Spain. Front Med. 2022;2022:756.
  • Hu L, Shang X, Yi S, et al. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families. Mol Genet Genomics. 2016;291(3):1443–1450.
  • Liu S, Jiang H, Wu M-Y, et al. Thalassemia intermedia caused by 16p13. 3 sectional duplication in a β-thalassemia heterozygous child. Pediatr Hematol Oncol. 2015;32(5):349–353.
  • Sollaino MC, Paglietti ME, Perseu L, et al. Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia. Haematologica. 2009;94(10):1445–1448.
  • Giardine BM, Joly P, Pissard S, et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2021;49(D1):D1192–D1196.

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