[Study of the types of mutations of Thalassemia in Shanghai area].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(4): 385-392, 2024 Apr 10.
Article
en Zh
| MEDLINE
| ID: mdl-38565501
ABSTRACT
OBJECTIVE:
To analyze the mutations of globin genes among patients suspected for thalassemia from the Shanghai area.METHODS:
A total of 4 644 patients diagnosed at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine between June 2016 and December 2019 were selected as the study subjects. The patients were tested for common mutations associated with thalassemia gene by Gap-PCR and reverse dot blotting (RDB). Patients were suspected to harbor rare mutations based on the inconsistency between hematological phenotypes and results of common mutation detection, and were further analyzed by Gap-PCR and Sanger sequencing.RESULTS:
Among the 4 644 patients, 2 194 (47.24%) were found to carry common thalassemia mutations, among which 701 (15.09%) were α-thalassemia, 1 448 (31.18%) were ß-thalassemia, and 45 (0.97%) were both α- and ß-thalassemia. Forty six samples were found to harbor rare mutations, which included 17 α-globin gene and 29 ß-globin gene mutations. CD77(CCC>ACC) (HBA2 c.232C>A) of the α-globin gene, NG_000007.3 g.70567_71015del449, codon 102(-A) (HBB c.308_308delA) and IVS-â ¡-636 (A>G) (HBB c.316-215A>G) of the ß-globin gene were previously unreported new types of globin gene mutations.CONCLUSION:
Among the 4 644 patients, the detection rate for common thalassemia mutations was 47.24%, whilst 46 samples were detected with rare gene mutations. The type of gene mutation types were diverse in the Shanghai area. The study has provided more accurate results for genetic diagnosis and counseling.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China