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International Journal of Hematology

, Volume 110, Issue 4, pp 474–481 | Cite as

Molecular characteristics of thalassemia and hemoglobin variants in prenatal diagnosis program in northern Thailand

  • Kanittha Mankhemthong
  • Arunee Phusua
  • Sudjai Suanta
  • Pitipong Srisittipoj
  • Pimlak CharoenkwanEmail author
  • Torpong Sanguansermsri
Original Article

Abstract

Molecular analysis of globin genes is an essential process for prenatal diagnosis (PND) of severe thalassemia. This study aimed to describe the molecular characteristics of thalassemia and hemoglobin (Hb) variants in PND program in northern Thailand. The type and frequency of globin gene mutations from 1290 couples at risk of fetal severe thalassemia diseases that were tested at Thalassemia Laboratory at Chiang Mai University from 2012 to 2017 were retrospectively reviewed. The PND program detected 444 (34.4%), 196 (15.2%) and 642 (49.8%) couples at risk of fetal Hb Bart’s hydrops fetalis, beta-thalassemia major (BTM) and beta-thalassemia/Hb E disease, respectively. Coinheritance of more than one type of thalassemia was common and eight (0.6%) couples were at risk of two types of severe thalassemia. There were two types of alpha0-thalassemia; 893 (99.7%) Southeast Asian and 3 (0.3%) Thai deletions. Twenty beta-globin gene mutations were found with 94.3% of beta0-thalassemia. The codon 41/42 (− TTCT), codon 17 (A>T), IVS-I-1 (G>T) and codon 71/72 (+ A) comprised 90% of beta-thalassemia mutations. The study shows a high percentage of couples at risk of fetal Hb Bart’s hydrops fetalis and BTM. The percentage of beta0-thalassemia is higher than those seen in other regions of Thailand.

Keywords

Genotype Globin gene Hemoglobinopathies Prenatal diagnosis Thalassemia 

Notes

Acknowledgements

The authors would like to thank the Thalassemia laboratory staff at the Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand, for their assistance.

Compliance with ethical standards

Conflicts of interest

The authors declare that they have no conflicts of interest.

Supplementary material

12185_2019_2694_MOESM1_ESM.docx (278 kb)
Supplementary material 1 (DOCX 277 kb)

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Copyright information

© Japanese Society of Hematology 2019

Authors and Affiliations

  1. 1.Department of Pediatrics, Faculty of MedicineChiang Mai UniversityChiang MaiThailand
  2. 2.Thalassemia Research Unit, Institute of Human GeneticsUniversity of PhayaoPhayaoThailand

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