Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α
Hb Doi-Saket
HbE
Thailand
α+-thalassemia
α-globin variant
Journal
Annals of medicine
ISSN: 1365-2060
Titre abrégé: Ann Med
Pays: England
ID NLM: 8906388
Informations de publication
Date de publication:
2023
2023
Historique:
medline:
9
10
2023
pubmed:
5
10
2023
entrez:
5
10
2023
Statut:
ppublish
Résumé
An increasing number of α-hemoglobin (Hb) variants is causing various clinical symptoms; therefore, accurate identification of these Hb variants is important. This study aimed to describe the molecular and hematological characteristics of novel Hb Doi-Saket that gives rise to a typical α Biological samples from a proband and his family members were analyzed. Hematological profiles were analyzed using a standard automated cell counter. Hb was analyzed by capillary electrophoresis and high-performance liquid chromatography. Mutations and globin haplotype were identified by DNA analysis. Novel diagnostic tools based on allele-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism were developed. Hb analysis showed a major abnormal Hb fraction, moving slower than HbA, and a minor Hb fraction alongside HbA Hb Doi-Saket emphasizes a great diversity present in α-globin gene. The mutation in this family from Thailand was linked to -α The Hb Doi-Saket is a novel α-globin variant mutation occurring in the α2-globin gene in
Sections du résumé
BACKGROUND
An increasing number of α-hemoglobin (Hb) variants is causing various clinical symptoms; therefore, accurate identification of these Hb variants is important.
OBJECTIVE
This study aimed to describe the molecular and hematological characteristics of novel Hb Doi-Saket that gives rise to a typical α
MATERIALS AND METHODS
Biological samples from a proband and his family members were analyzed. Hematological profiles were analyzed using a standard automated cell counter. Hb was analyzed by capillary electrophoresis and high-performance liquid chromatography. Mutations and globin haplotype were identified by DNA analysis. Novel diagnostic tools based on allele-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism were developed.
RESULTS
Hb analysis showed a major abnormal Hb fraction, moving slower than HbA, and a minor Hb fraction alongside HbA
CONCLUSIONS
Hb Doi-Saket emphasizes a great diversity present in α-globin gene. The mutation in this family from Thailand was linked to -α
The Hb Doi-Saket is a novel α-globin variant mutation occurring in the α2-globin gene in
Autres résumés
Type: plain-language-summary
(eng)
The Hb Doi-Saket is a novel α-globin variant mutation occurring in the α2-globin gene in
Identifiants
pubmed: 37796611
doi: 10.1080/07853890.2023.2264174
pmc: PMC10557546
doi:
Substances chimiques
Hemoglobin E
9034-61-1
Hemoglobins, Abnormal
0
DNA
9007-49-2
alpha-Globins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2264174Références
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