OBJECTIVES: The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services. METHODS: Analysis of the years 1993-2002 using a hospital-based registry of genetic diseases was attempted. More than 3,000 records were reviewed. Only patients with definite diagnosis were included in the analysis. Genetically determined diseases occurring less frequently than 1 in 50,000 births are not included. RESULTS: A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths. CONCLUSIONS: The data suggest that genetic diseases are important as major contributors to perinatal and childhood mortality and morbidity. The need for preventive genetic service is essential for the health of the community in Oman. Autosomal recessive diseases were frequently concentrated in specific geographical areas, which can be explained by founder effect and genetic drift. However, the hospital-based registry may present incomplete information. Further prospective studies are needed to provide more detailed data.
OBJECTIVES: The local frequencies of genetic disorders in Oman apart from hemoglobinopathies are largely unknown. The aim of the present study was to evaluate birth prevalence of commonly diagnosed autosomal recessive diseases and to estimate needs and priorities of genetic services. METHODS: Analysis of the years 1993-2002 using a hospital-based registry of genetic diseases was attempted. More than 3,000 records were reviewed. Only patients with definite diagnosis were included in the analysis. Genetically determined diseases occurring less frequently than 1 in 50,000 births are not included. RESULTS: A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths. CONCLUSIONS: The data suggest that genetic diseases are important as major contributors to perinatal and childhood mortality and morbidity. The need for preventive genetic service is essential for the health of the community in Oman. Autosomal recessive diseases were frequently concentrated in specific geographical areas, which can be explained by founder effect and genetic drift. However, the hospital-based registry may present incomplete information. Further prospective studies are needed to provide more detailed data.
Authors: Flavia Palombo; Nadia Al-Wardy; Guido Alberto Gnecchi Ruscone; Manuela Oppo; Mohammed Nasser Al Kindi; Andrea Angius; Khalsa Al Lamki; Giorgia Girotto; Tania Giangregorio; Matteo Benelli; Alberto Magi; Marco Seri; Paolo Gasparini; Francesco Cucca; Marco Sazzini; Mazin Al Khabori; Tommaso Pippucci; Giovanni Romeo Journal: J Hum Genet Date: 2016-10-13 Impact factor: 3.172
Authors: Anna Rajab; Nishath Hamza; Salma Al Harasi; Fatma Al Lawati; Una Gibbons; Intesar Al Alawi; Karoline Kobus; Suha Hassan; Ghariba Mahir; Qasim Al Salmi; Barend Mons; Peter Robinson Journal: F1000Res Date: 2015-09-23