Genetic diseases are most prevalent among Arabs and have been mainly attributed to consanguinity. In Oman, a Middle Eastern country located on the Arabian Peninsula, the average rate of genetic diseases is between 5.4 to 7 percent in new live births, exceeding the global average of 4.5 percent.
Consanguinity, advanced maternal age and high rates of inherited blood disorders are substantial contributors to genetic disease in Oman. In fact, 3.5 to 7 per 1,000 Omani live births have a genetic blood disorder, and 60 percent of the population has genes for genetic blood disorders. The most common blood disorder in Oman is a G6PD deficiency, with 12 percent of women and 28 percent of men having the G6PD deficiency gene.
More than 300 different genetic diseases in Oman have been identified. The most common are autosomal recessive disorders, which result from inheriting two mutated genes. Examples of autosomal recessive disorders include cystic fibrosis, sickle cell disease, Tay-Sachs disease and alpha- and beta-thalassemia. Autosomal recessive conditions are a significant cause of handicap, morbidity, and mortality among Omani children.
Though the birth prevalences of most genetic disorders in Oman are unknown, it has been estimated that Down Syndrome (one in 350 live births) and hemoglobin disorders (3.5 to 4.7 in 1,000 live births) are reaching epidemic levels with more than 100 cases per 100,000 live births.
The apparent rise in rates of genetic diseases in Oman is likely more about previously unidentified cases of genetic diseases being diagnosed than about more Omanis being born with genetic disorders. As diagnosis capacity and expertize have improved, the number of diagnosed conditions has grown.
The development of community-based genetic services and the routinization of early detection and diagnosis in Oman have been followed by the gradual reduction in infant and prenatal mortality. Information-based health education has also been implemented in Oman to improve genetic literacy.
Better services for diagnosing and treating disabling conditions will continue to increase the number of people who need assistance with handicapping genetic diseases. Rising disability rates and a higher number of diagnosed conditions are the necessary precursors of progress toward the prevention and reduction of genetic diseases in Oman.
The government has been working to address the need for more accessible, long-term treatment options in Oman. Their current response is primarily focused on the integration of genetic services into the primary health care system. Involvement of the primary health care system will be the basis for more accessible genetic services for the entire Omani population.
– Gabrielle Doran