The limitation of factor IX coagulant activity determination in the diagnosis of hemophilia B carriers.
Artículo
en Inglés
| IMSEAR
| ID: sea-43565
ABSTRACT
A preliminary study of factor IX coagulant activity (FIXC) for determining hemophilia B carriers was conducted at the Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital in Bangkok. Twenty-eight females (8 obligate, 20 potential carriers) from 17 hemophilia B families were enrolled in the study. Additionally, 25 normal females were included. They were not pregnant and not using oral contraceptives. Then, three cut-off levels of FIXC including 50 per cent which was the commonly used level; 57 per cent which was the mean-2 SD of normal females and 75 per cent which was the level reported by Knobe and Ljung in 1999 were used for the diagnosis of hemophilia B carriers. The sensitivities of these three cut-off levels were 12.5 per cent (1/8) for 50 per cent, 37.5 per cent (3/8) for 57 per cent and 50 per cent (4/8) for 75 per cent. Also, the specificities were 100 per cent (25/25) for both 50 and 57 per cent, and 96 per cent (24/25) for 75 per cent. Although the low cut-off levels of 50 per cent and 57 per cent had low sensitivities, they yielded a high specificity (100%) compared to the higher level of 75 per cent. In the present study, the sensitivity of the cut-off level at 75 per cent was much lower than that of the study by Knobe and Ljung (93%) since the presented sample size of obligate carriers was rather small. So, enrollment of more subjects should be further carried out. In conclusion, FIXC determination alone showed a limitation in the diagnosis of hemophilia B carriers. The addition of genetic analysis of linkage analysis or mutation detection is required for a definite diagnosis.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Factor IX
/
Hemofilia B
/
Sensibilidad y Especificidad
/
Adolescente
/
Adulto
/
Heterocigoto
/
Persona de Mediana Edad
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Año:
2002
Tipo del documento:
Artículo
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