Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (

Humans Male beta-Globins / genetics beta-Thalassemia / diagnosis Codon, Initiator / genetics Genotype Mutation Phenotype Child
Kurdistan Region initiation Codon p.Met1Thr β-thalassemia

Journal

Hemoglobin
ISSN: 1532-432X
Titre abrégé: Hemoglobin
Pays: England
ID NLM: 7705865

Informations de publication

Date de publication:
May 2023
Historique:
medline: 8 8 2023
pubmed: 28 7 2023
entrez: 28 7 2023
Statut: ppublish

Résumé

β-thalassemia is one of the most common inherited autosomal disorders in the northern Iraqi Kurdistan region. This study reports a rare mutation in the initiation codon of the β-globin gene (

Identifiants

DOI: 10.1080/03630269.2023.2240708 PMID: 37503544
pubmed: 37503544
doi: 10.1080/03630269.2023.2240708
doi:

Substances chimiques

beta-Globins 0
Codon, Initiator 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

118-121

Auteurs

Rawand Shamoon (R)

Department of Pathology, College of Medicine, Hawler Medical University, Erbil, Iraq.
Department of Hematology, Nanakali Hospital of Blood Diseases and Cancer, Erbil, Iraq.
Department of Hematology, Thalassemia Care Center, Erbil, Iraq.
Department of Laboratory Medical Sciences, College of Health Sciences, Catholic University in Erbil, Erbil, Iraq.
Genetics Unit, Laboratory Division, PAR Private Hospital, Erbil, Iraq.

Ahmed Yassin (A)

Department of Internal Medicine, College of Medicine, Hawler Medical University, Erbil, Iraq.
Department of Clinical Hematology, Nanakali Hospital of Blood Diseases and Cancer, Erbil, Iraq.

Amir Charkaneh (A)

Genetics Unit, Laboratory Division, PAR Private Hospital, Erbil, Iraq.
Department of Biology, University of Guilan, Rasht, Iran.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines bêta › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › bêta-Thalassémie › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Codon › Codon d'initiation › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Detection of a Rare Mutation in the Initiation...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Detection of a Rare Mutation in the Initiation...