When a synonymous mutation breaks the silence in a thalassaemia patient.
Br J Haematol
; 204(2): 677-682, 2024 02.
Article
em En
| MEDLINE
| ID: mdl-37742714
ABSTRACT
Synonymous mutations were considered to lack functional roles in human diseases; however, distinguishing deleterious synonymous mutations from benign ones is still a challenge. In this article, we identified a deleterious synonymous mutation ß-codon 16 (C>T). HBB c.51C>T, in compound heterozygous form with known ß-thalassaemia mutation patients who clinically presented as non-transfusion-dependent thalassaemia (NTDT). A total of 9 families with 11 compound heterozygous index cases were reported. In the heterozygous state, codon 16 (C>T) mutation results in borderline HbA2 (3.18 ± 0.36%) and slightly reduced RBC indices (RBCs 4.73 ± 0.75 × 106 /µL, Hb 12.26 ± 2.60 g/dL, MCV 79.48 ± 8.40 fL, MCH 25.95 ± 4.15 pg). The compound heterozygous patients showed elevated HbA2 (5.98 ± 1.17%) and HbF (12.75 ± 7.51%) and presented clinically as NTDT with a mean Hb of 6.95 ± 1.29 g/dL. Many of them were dependent on few transfusions and had mild splenomegaly. Of the 11 patients, 5 (45.4%) were treated with hydroxyurea. This study highlights the clinical significance of synonymous mutation, when inherited with other ß-thalassaemia mutations leading to the phenotype of NTDT. Thus, the study would help to improve screening protocols for ß-thalassaemia carriers, which will ultimately improve the prevention programme.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia
/
Talassemia beta
Tipo de estudo:
Guideline
Limite:
Humans
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia