Hb Milano [α109(G16)Leu→Pro (C
genetic counseling
microcytosis
nondeletional α-thalassemia (α-thal) type
unstable α-globin gene
α1-Globin variant
Journal
Hemoglobin
ISSN: 1532-432X
Titre abrégé: Hemoglobin
Pays: England
ID NLM: 7705865
Informations de publication
Date de publication:
Jan 2019
Jan 2019
Historique:
pubmed:
16
5
2019
medline:
26
11
2019
entrez:
16
5
2019
Statut:
ppublish
Résumé
Interest in α-globin point mutations has increased in the past few years because nondeletional variations can affect protein function and stability, giving rise to hemoglobin (Hb) variants that present a wide spectrum of phenotypes, from asymptomatic forms to hemolytic anemia. We describe a novel α1-globin gene variant, which we have named Hb Milano [α109(G16)Leu→Pro (C
Identifiants
pubmed: 31084368
doi: 10.1080/03630269.2019.1566138
doi:
Substances chimiques
Glycated Hemoglobin A
0
Hemoglobins, Abnormal
0
alpha-Globins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM