Screening and genotyping of thalassemia in Ningbo / 中华地方病学杂志
Chinese Journal of Endemiology
;
(12): 548-553, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-991669
ABSTRACT
Objective:
To study the genotyping of thalassemia in Ningbo population and provide a reference basis for future prevention and control of thalassemia in Ningbo.Methods:
Patients with suspected thalassemia attending Ningbo Women and Children's Hospital from January 2019 to March 2022 were selected for the study, and DNA was extracted from dried blood spot specimens by collecting peripheral blood, and detection of thalassemia hotspot variants was performed by fluorescence PCR melting curve analysis combined with Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).Results:
A total of 2 680 cases were included in the patients with suspected thalassemia, and 1 426 cases of thalassemia gene carriers were detected, with an overall detection rate of 53.2%. Among them, 595 cases (41.7%) were α-thalassemia, with -- SEA/αα, αα/-α 3.7 and -- SEA/-α 3.7 being more common; 807 cases (56.6%) were β-thalassemia, with β IVS-Ⅱ-654/β N, β CD41-42/β N and β CD17/β N being more common; 24 cases (1.7%) were αβ-combined thalassemia. Among them, six rare variant types were included, including fusion gene (Fusion), -- FIL, HBA2c.376C>T, CD8/9(+G), IVS-Ⅰ-2(T>C) and IVS-Ⅱ-1(G>A), all of which were reported for the first time in Ningbo.Conclusion:
Among suspected thalassemia patients in Ningbo, the detection rate of thalassemia is high, and the types of gene variants are complex, so the awareness of thalassemia gene testing for anemic patients should be raised.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Endemiology
Año:
2023
Tipo del documento:
Artículo
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