Okwi Andrew L, Byarugaba Wilson, Ndugwa Christopher M, Parkes Arthur, Ocaido Michael, Tumwine James K
Department of Pathology, Makerere University, College of Health Sciences, P,O, Box 7072, Kampala, Uganda.
BMC Blood Disord. 2010 Jun 23;10:5. doi: 10.1186/1471-2326-10-5.
The first survey on sickle cell disease (SCD) done in Uganda in 1949, reported the district of Bundibugyo in Western Uganda to have the highest sickle cell trait (SCT) prevalence (45%). This is believed to be the highest in the whole world. According to the same survey, the prevalence of SCT in the districts of Mbale and Sironko in the East was 20-28%, whilst the districts of Mbarara and Ntungamo in the West had 1-5%. No follow-up surveys have been conducted over the past 60 years. SCA accounts for approximately 16.2% of all pediatric deaths in Uganda. The pattern of SCT inheritance, however, predicts likely changes in the prevalence and distribution of the SCT. The objective of the study therefore was to establish the current prevalence of the SCT in Uganda.
This study was a cross sectional survey which was carried out in the districts of Mbale and Sironko in the Eastern, Mbarara/Ntungamo and Bundibugyo in Western Uganda. The participants were children (6 months-5 yrs). Blood was collected from each subject and analyzed for hemoglobin S using cellulose acetate Hb electrophoresis.
The established prevalence of the SCT (As) in Eastern Uganda was 17.5% compared to 13.4% and 3% in Bundibugyo and Mbarara/Ntungamo respectively. 1.7% of the children in Eastern Uganda tested positive for haemoglobin ss relative to 3% in Bundibugyo, giving gene frequencies of 0.105 and 0.097 for the recessive gene respectively. No ss was detected in Mbarara/Ntungamo.
A shift in the prevalence of the SCT and ss in Uganda is notable and may be explained by several biological and social factors. This study offers some evidence for the possible outcome of intermarriages in reducing the incidence of the SCT.
1949年在乌干达进行的首次镰状细胞病(SCD)调查显示,乌干达西部的本迪布焦区镰状细胞性状(SCT)患病率最高(45%)。据信这是全世界最高的。根据同一项调查,东部的姆巴莱区和锡龙科区SCT患病率为20%-28%,而西部的姆巴拉拉区和恩通加莫区为1%-5%。在过去60年里没有进行后续调查。镰状细胞贫血(SCA)约占乌干达所有儿科死亡病例的16.2%。然而,SCT的遗传模式预示着SCT患病率和分布可能发生变化。因此,本研究的目的是确定乌干达目前SCT的患病率。
本研究是一项横断面调查,在乌干达东部的姆巴莱区和锡龙科区、西部的姆巴拉拉/恩通加莫区和本迪布焦区开展。参与者为儿童(6个月至5岁)。从每个受试者采集血液,并用醋酸纤维素血红蛋白电泳分析血红蛋白S。
乌干达东部确定的SCT(As)患病率为17.5%,而本迪布焦区和姆巴拉拉/恩通加莫区分别为13.4%和3%。乌干达东部1.7%的儿童血红蛋白ss检测呈阳性,而本迪布焦区为3%,隐性基因的基因频率分别为0.105和0.097。在姆巴拉拉/恩通加莫区未检测到ss。
乌干达SCT和ss患病率的变化显著,可能由多种生物学和社会因素解释。本研究为通婚在降低SCT发病率方面的可能结果提供了一些证据。