Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family.

Belgium Family Hemoglobins, Abnormal Heterozygote Humans Hydrops Fetalis Sequence Deletion / genetics Telomere / genetics alpha-Globins / genetics alpha-Thalassemia / genetics
Belgian family novel large deletion α-Thalassemia (α-thal) trait

Journal

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

Informations de publication

Date de publication:
Mar 2019
Historique:
pubmed: 22 6 2019
medline: 14 1 2020
entrez: 22 6 2019
Statut: ppublish

Résumé

α-Thalassemia (α-thal) is a common hemoglobinopathy mainly caused by deletion of one or both α-globin genes. We describe an autochthonous Belgian family diagnosed with α-thal trait. Molecular analysis revealed a novel large deletion of at least 170 kb between 226.68 kb (0.2 Mb) and 402.68 kb (0.4 Mb) from the telomere of 16p, leaving the subtelomeric region intact. The deletion includes both α-globin genes (

Identifiants

DOI: 10.1080/03630269.2019.1625786 PMID: 31223040
pubmed: 31223040
doi: 10.1080/03630269.2019.1625786
doi:

Substances chimiques

Hemoglobins, Abnormal 0
alpha-Globins 0
hemoglobin Bart's 9056-09-1

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

112-115

Auteurs

Laura Heireman (L)

a Department of Laboratory Medicine , General Hospital Maria Middelares , Ghent , Belgium.

Ariane Luyckx (A)

a Department of Laboratory Medicine , General Hospital Maria Middelares , Ghent , Belgium.

Katrien De Schynkel (K)

b Department of Pediatrics , General Hospital Maria Middelares , Ghent , Belgium.

Annelies Dheedene (A)

c Center for Medical Genetics , Ghent University Hospital , Ghent , Belgium.

Mélanie Delaunoy (M)

d Departments of Clinical Chemistry and Molecular Genetics , Academic Hospital Erasme, Free University of Brussels , Brussels , Belgium.

Anne-Sophie Adam (AS)

d Departments of Clinical Chemistry and Molecular Genetics , Academic Hospital Erasme, Free University of Brussels , Brussels , Belgium.

Béatrice Gulbis (B)

d Departments of Clinical Chemistry and Molecular Genetics , Academic Hospital Erasme, Free University of Brussels , Brussels , Belgium.

Johan Dierick (J)

a Department of Laboratory Medicine , General Hospital Maria Middelares , Ghent , Belgium.

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Classifications MeSH

questionsmedicales.fr › Régions géographiques › Europe › Belgique › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Sciences sociales › Sociologie › Facteurs sociologiques › Famille › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Hémoglobines anormales › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Oedème › Anasarque foetoplacentaire › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Structures de chromosome › Télomère › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines alpha › Detection of a Large Novel α-Thalassemia...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › alpha-Thalassémie › Detection of a Large Novel α-Thalassemia...