Hb Hezhou [ß64(E8)GlyâSer; HBB: c.193G>A]: A Novel Variant on the ß-Globin Gene.
Hemoglobin
; 45(2): 133-135, 2021 Mar.
Article
en En
| MEDLINE
| ID: mdl-33843396
ABSTRACT
We report a novel mutation on the ß-globin gene, Hb Hezhou [ß64(E8)GlyâSer; HBB c.193G>A] that was detected in two unrelated Chinese individuals. Patient 1 also carried an α+-thalassemia (α+-thal) -α4.2 (leftward) deletion, but hematological analyses showed no clinical consequences. Patient 2 was heterozygous for Hb Hezhou. Hemoglobin (Hb) analysis was performed using capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). The Hb variant remained undetected using HPLC, while an additional peak was detected by CE. The finding of Hb Hezhou indicates that the possibilities of rare Hb variants should be alerted in the thalassemia screening program and precisely diagnosed depending on the Hb separation technique used.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Talasemia alfa
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Hemoglobin
Año:
2021
Tipo del documento:
Article