Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and beta-thalassemia in Saudi Arabia

Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and beta-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and beta-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and beta-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary. Out of all men and women examined, 70962 [4.5%] and 29006 [1.8%] were carriers or cases of sickle cell disease and beta-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 [average 45.1 per 1000 examined persons, P=.803], the prevalence of beta-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons [P<.001]. The frequency of at-risk couples decreased by about 60% between 2004 and 2009 [from 10.1 to 4.0 per 1000 examined persons, P<.001]. The frequency of voluntary cancellation of marriage proposals among at-risk couples showed more than 5-fold increase between 2004 and 2009 [from 9.2% to 51.9%, P<.001]. The eastern region had 58% of all detected at-risk marriages and showed the greatest decline in detection and increase in prevention over time compared to other regions of Saudi Arabia. Six years of premarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades

natural history and the national pre-marital screening program in Saudi Arabia

The genetic disorders are chronic in nature and, therefore, require continuous support and health care. Consequently, the genetic diseases cause formidable economic and psychosocial burdens on the family with negative reflection on the community at large. The genetic diseases are a heterogeneous group that result in varieties of chronic health ailment as a result of defects in the genetic material. The congenital malformations and some genetic defects may result from exposure to radiation, pharmaceutical drugs, the exposure of the mother during pregnancy to certain infectious diseases, such as rubella, toxoplasma or viruses. It may also result as a side effect of chronic diseases, including diabetes, hypertension or varieties of environmental factors, or both. The other group of genetic diseases are transmitted from parents to the offspring through a specific pattern of inheritance exemplified by recessive genetic disorders. This group includes the sickle cell gene, the thalassemias, the hemophilias, inborn errors of metabolism and red cell enzymopathies. The main etiological factors of genetic diseases and congenital malformations are 1 Genetic defects which are transmitted to offspring through carriers of affected parents. 2 Mutations in the genetic materials due to spontaneous mutations, exposure of the mother during pregnancy to infectious diseases, such as rubella and toxoplasma, receiving certain teratogenic drugs during pregnancy, exposure of the mother to ionizing radiation during pregnancy such as x-ray and chronic diseases of the mother, such as diabetes mellitus. 3 Others such as difficult labor or injury to the baby, during or after labor. This paper reviews the natural history of common blood genetic disorders and the means of prevention and control, focusing on pre-marital screening as a means of prevention

La detección de anticuerpos contra el VIH como evaluación prenupcial / The detection of a antibodies against HIV as a prenuptial evaluation

Introducción. En Yucatán, México la infección por el VIH (IVIH) es predominantemente una enfermedad de transmisión sexual. La transmisión por práctica heterosexuales se ha incrementado particularmente en mujeres cuyo factor de riesgo son las prácticas bisexuales de sus parejas. Un reporte demostró que la transmisión heterosecual había ocurrido en el 66 por ciento de la sparejas conyugales de los hombres que incialmente se identificaron como infectados y en el 20 por ciento de las parejas en las que la mujer era la infectada inicialmente. El objetivo del presente trabajo es determinar la prevalencia de IVIH en un grupo de parejas heterosexuales. Material y Métodos. Entre marzo de 1994 y noviembre de 1997 se estudiaron 251 parejas a realizarse de manera coluntaria la determinación Ac-VIH como evaluación prenupcial. Se recabaron datos epidemiológicos y demográficos y se tomó muestra sanguínea pa detección a través de Ensayo Inmunoenzimático (ImmunoComb II, Orgenics, Yaune, Israel). De los resultados se obtuvo la prevalencia de IVIH y el intervalo de confianza al 95 por ciento. Resultados. La edad promedio de grupo fue de 26 años clinicamente sanos. Durante los 44 mese se reportó un caso de seropositividad con una prevalencia de 0.2 por ciento (I.C. 95 por ciento: 0.196-0.203) en un hombre de 24 años, confirmándose por Western blot. Discusión. La frecuencia de Ac-NIH en este grupo de personas fue de 0.2 por ciento, cifra similar a la reportada en donadores de sangre del centro Estatal de la Transfusión Sanguínea del Estado de Yucatán (0.3 por ciento)