Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.

Female Humans Pregnancy alpha-Thalassemia / diagnosis Anemia Anemia, Hypochromic / diagnosis East Asian People Glycated Hemoglobin Iron Mutation Heterozygote
HBA1 Thalassemia iron deficiency anemia next-generation sequencing pregnancy

Journal

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

Informations de publication

Date de publication:
Nov 2023
Historique:
medline: 6 11 2023
pubmed: 11 10 2023
entrez: 11 10 2023
Statut: ppublish

Résumé

We reported the identification of two rare α-thalassemia silent carriers with novel

Identifiants

DOI: 10.1080/03630269.2023.2263365 PMID: 37818638
pubmed: 37818638
doi: 10.1080/03630269.2023.2263365
doi:

Substances chimiques

Glycated Hemoglobin 0
Iron E1UOL152H7

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

172-179

Auteurs

Wenqian Zhang (W)

BGI Genomics, Shenzhen, China.
Clin Lab, BGI Genomics, Wuhan, China.
Department of Biology, University of Copenhagen, Copenhagen, Denmark.

Xiaoqiang Han (X)

Department of Obstetrics and Gynecology, Xiangyang No.1 People's Hospital, Hubei University of Medicine, Xiangyang, China.

Jie Deng (J)

Department of Obstetrics and Gynecology, Xiangyang No.1 People's Hospital, Hubei University of Medicine, Xiangyang, China.

Rui Zhou (R)

BGI Genomics, Shenzhen, China.
Clin Lab, BGI Genomics, Wuhan, China.

Xiaoyun Du (X)

BGI Genomics, Shenzhen, China.
Clin Lab, BGI Genomics, Wuhan, China.

Cheng Wu (C)

BGI Genomics, Shenzhen, China.
Clin Lab, BGI Genomics, Wuhan, China.

Mingqun Li (M)

Department of Obstetrics and Gynecology, Xiangyang No.1 People's Hospital, Hubei University of Medicine, Xiangyang, China.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Hémoglobinopathies › Thalassémie › alpha-Thalassémie › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Anémie › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Hémopathies et maladies lymphatiques › Hémopathies › Anémie › Anémie hypochrome › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Personnes › Asiatiques › Peuples d'Asie de l'Est › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Facteurs biologiques › Toxines biologiques › Produits terminaux de glycation avancée › Protéines glyquées › Protéine glycosylée sérique › Hémoglobine glycosylée › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Produits chimiques inorganiques › Métaux › Métaux lourds › Fer › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Two Novel α-Thalassemia Mutations CD 39 -C...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Two Novel α-Thalassemia Mutations CD 39 -C...