Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A
Hb A(2)-Roi-Et
Hb A(2)-variant
δ-Hemoglobinopathies
δ-thalassemia
Journal
Clinica chimica acta; international journal of clinical chemistry
ISSN: 1873-3492
Titre abrégé: Clin Chim Acta
Pays: Netherlands
ID NLM: 1302422
Informations de publication
Date de publication:
01 Jul 2023
01 Jul 2023
Historique:
received:
04
04
2023
revised:
15
05
2023
accepted:
01
06
2023
medline:
10
7
2023
pubmed:
6
6
2023
entrez:
5
6
2023
Statut:
ppublish
Résumé
δ-hemoglobinopathies may lead to misdiagnosis of several thalassemia syndromes especially β-thalassaemia carrier, it is important to evaluate the δ-globin gene defects in areas with high prevalence of globin gene disorders. We describe a prospective screening for δ-hemoglobinopathies in a routine setting in Thailand. Study was done on a cohort of 8,471 subjects referred for thalassemia screening, 317 (3.7%) were suspected of having δ-globin gene defects due to reduced hemoglobin (Hb) A DNA analysis of δ-globin gene identified seven different δ-globin mutations in 24 of 317 subjects (7.6%). Both known mutations; δ The result confirms a diverse heterogeneity of δ-hemoglobinopathies in Thailand which should prove useful in a prevention and control program of thalassemia in the region.
Sections du résumé
BACKGROUND
BACKGROUND
δ-hemoglobinopathies may lead to misdiagnosis of several thalassemia syndromes especially β-thalassaemia carrier, it is important to evaluate the δ-globin gene defects in areas with high prevalence of globin gene disorders. We describe a prospective screening for δ-hemoglobinopathies in a routine setting in Thailand.
METHODS
METHODS
Study was done on a cohort of 8,471 subjects referred for thalassemia screening, 317 (3.7%) were suspected of having δ-globin gene defects due to reduced hemoglobin (Hb) A
RESULTS
RESULTS
DNA analysis of δ-globin gene identified seven different δ-globin mutations in 24 of 317 subjects (7.6%). Both known mutations; δ
CONCLUSIONS
CONCLUSIONS
The result confirms a diverse heterogeneity of δ-hemoglobinopathies in Thailand which should prove useful in a prevention and control program of thalassemia in the region.
Identifiants
pubmed: 37276945
pii: S0009-8981(23)00219-X
doi: 10.1016/j.cca.2023.117417
pii:
doi:
Substances chimiques
delta-Globins
0
hemoglobin AS
52012-19-8
Hemoglobin A2
9034-53-1
DNA
9007-49-2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
117417Informations de copyright
Copyright © 2023 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.