A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)GlyâArg,HBD: C.139G > A].
Hemoglobin
; 48(2): 121-124, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38450437
ABSTRACT
We report a new δ-chain hemoglobin (Hb) variant observed in a 5-year-old female living in Yulin, Guangxi, China. Capillary electrophoresis revealed splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2 variant), and the Hb A2 variant was also detected by high-performance liquid chromatography. However, it could not be detected using matrix-assisted laser desorption lonization-time of flight mass spectrometry. CD41-42 (-TCTT) heterozygosity was observed on the HBB gene by PCR and reverse dot-blot hybridization. Sanger sequencing showed a new transition (G > A) at codon 46 of the HBD gene, resulting in glycine changing to arginine. Based on the patient's place of residence, the new variant was named Hb A2-Yulin [δ46(CD5)GlyâArg,HBDc.139G > A].
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Hemoglobina A2
/
Hemoglobinas Anormales
/
Globinas delta
Límite:
Child, preschool
/
Female
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Hemoglobin
Año:
2024
Tipo del documento:
Article
País de afiliación:
China