Hb Dahua [β59(E3)Lys→Met;

China Chromatography, High Pressure Liquid Hemoglobins, Abnormal / genetics Heterozygote Humans Infant Lysine / genetics Male Mutation beta-Globins / genetics
Capillary electrophoresis (CE) Hb Dahua capillary isoelectric focusing electrophoresis (CIFE) high performance liquid chromatography (HPLC) variant

Journal

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

Informations de publication

Date de publication:
Sep 2021
Historique:
pubmed: 28 12 2021
medline: 20 5 2022
entrez: 27 12 2021
Statut: ppublish

Résumé

We report a novel hemoglobin (Hb) variant found in a Chinese individual from the Guangxi Zhuang Autonomous Region of the People's Republic of China. The proband was a 6-month-old boy who came from Dahua county, Hechi City. Capillary zone electrophoresis (CZE) showed an abnormal peak (51.2%) in zone 13. However, capillary isoelectric focusing electrophoresis (CIFE) presented an unknown peak in zone Bart's (51.4%). High performance liquid chromatography (HPLC) displayed an unknown peak (42.1%) at retention time 2.44 min., eluting before Hb A

Identifiants

DOI: 10.1080/03630269.2021.2016442 PMID: 34957905
pubmed: 34957905
doi: 10.1080/03630269.2021.2016442
doi:

Substances chimiques

Hemoglobins, Abnormal 0
beta-Globins 0
Lysine K3Z4F929H6

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

332-334

Auteurs

Yan-Ye Qin (YY)

Department of Clinical Laboratory, Women and Children Care Hospital of Dahua County, Hechi, Guangxi, China.

Xiao-Juan Huang (XJ)

Department of Clinical Laboratory, Women and Children Care Hospital of Dahua County, Hechi, Guangxi, China.

Yue-Liao Ma (YL)

Department of Clinical Laboratory, Women and Children Care Hospital of Dahua County, Hechi, Guangxi, China.

Jiao-Xiu Qin (JX)

Department of Clinical Laboratory, Women and Children Care Hospital of Dahua County, Hechi, Guangxi, China.

Liang Liang (L)

Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.

You-Qiong Li (YQ)

Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
ORCID: 0000-0002-8640-7375

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Classifications MeSH

questionsmedicales.fr › Régions géographiques › Asie › Extrême-Orient › Chine › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Chromatographie › Chromatographie en phase liquide › Chromatographie en phase liquide à haute performance › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Hémoglobines anormales › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés essentiels › Lysine › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Hb Dahua [β59(E3)Lys→Met;
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Hémoglobines › Sous-unités de l'hémoglobine › Globines bêta › Hb Dahua [β59(E3)Lys→Met;