Hb Hebei [α20 (B1) HisâLeu; HBA2:C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin.
Hemoglobin
; 48(1): 63-65, 2024 Jan.
Article
en En
| MEDLINE
| ID: mdl-38314585
ABSTRACT
We report a novel hemoglobin (Hb) variant found in a 34-year-old Chinese male during a routine measurement of glycated hemoglobin. The variant resulted in a P3 peak of 27.5% of the total Hb on high performance liquid chromatography (HPLC) with a glycated hemoglobin mode. However, no abnormal Hb peaks were observed in capillary electrophoresis (CE) with 3.1% Hb A2 and 96.9% Hb A. The amino acid substitution was determined by Sanger sequencing as α20 (B1) HisâLeu; the corresponding DNA mutation was identified as CAC > CTC at the first position of codon 20 of the α-chain. This is the first description of the mutation, and we have named it Hb Hebei for the region of origin of the proband.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Globinas alfa
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Hemoglobin
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido