A Novel Frameshift Mutation of HBB Causing Dominant ß-Thalassemia in a Chinese Individual.
Hemoglobin
; 48(3): 182-185, 2024 May.
Article
en En
| MEDLINE
| ID: mdl-39103314
ABSTRACT
We reported a rare ß-thalassemia patient, a 41-year-old Chinese male with small cell hypopigmentation anemia, jaundice and splenomegaly as the main clinical symptoms. By using Next-Generation Sequencing (NGS), we identified a novel de novo HBB mutation(c.358_365dup, p.Phe123Alafs*39) which resulted in an abnormally prolonged ß-globin chain comprising 159 amino acid residues. The secondary and three-dimensional structures of the ß-globin predicted that the novel prolonged ß-globin chain has a considerable risk of instability in the hemoglobin, and leads to clinical phenotype. This study contributes to the enrichment of the genetic pathogenic mutation database for thalassemia and underscores the significance of NGS in the screening of mutations for thalassemia families.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación del Sistema de Lectura
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Talasemia beta
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Pueblo Asiatico
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Globinas beta
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Hemoglobin
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido