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

International Journal of Hematology
Kanittha MankhemthongTorpong Sanguansermsri

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 i...Continue Reading

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Citations

Jan 3, 2020·International Journal of Hematology·Nur Suraya Che YaacobRosline Hassan
Jun 3, 2020·Hemoglobin·Sitthichai Panyasai, Sakorn Pornprasert
Oct 30, 2019·International Journal of Hematology·Chamnong NopparatanaKorntip Srewaradachpisal
Aug 10, 2020·Journal of Pediatric Hematology/oncology·Natthawadee NantaPimlak Charoenkwan
Oct 15, 2020·International Journal of Environmental Research and Public Health·Lucky Poh Wah GohPing-Chin Lee
Mar 19, 2021·Genetic Testing and Molecular Biomarkers·Lourdes Del Carmen Rizo-de la TorreFrancisco Javier Perea-Díaz

Related Concepts

Sense Codon
Embryopathies
Eryhem
Antenatal Screening Procedures
Preventive Health Services
Retrospective Studies
Relative Risk
Severity of Illness Index
Thalassemia
Immune Hydrops Fetalis

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