Rajab A, Bappal B, Al-Shaikh H, Al-Khusaibi S, Mohammed A J
Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Sultanate of Oman.
Community Genet. 2005;8(1):27-30. doi: 10.1159/000083334.
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.
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.
A number of rare autosomal recessive diseases are found to have a prevalence at least 1 in 50,000 livebirths.
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.
除血红蛋白病外，阿曼遗传疾病的本地发病率很大程度上尚不明确。本研究的目的是评估常见诊断的常染色体隐性疾病的出生患病率，并估计遗传服务的需求和优先事项。
尝试使用基于医院的遗传疾病登记处对1993年至2002年的数据进行分析。审查了3000多条记录。分析仅纳入确诊患者。发病率低于每50000例出生1例的遗传疾病未纳入分析。
发现一些罕见的常染色体隐性疾病在活产中的患病率至少为每50000例1例。
数据表明，遗传疾病作为围产期和儿童期死亡率及发病率的主要促成因素很重要。预防性遗传服务的需求对阿曼社区的健康至关重要。常染色体隐性疾病经常集中在特定地理区域，这可以用奠基者效应和遗传漂变来解释。然而，基于医院的登记处可能提供不完整的信息。需要进一步的前瞻性研究来提供更详细的数据。
