Torres-Guerra E, Torres-Guerra T, Valbuena G, Arteaga Vizcaíno M, Soto L
Instituto de Investigaciones Clínicas, Facultad de Medicina, Universidad Zulia, Maracaibo, Venezuela.
Invest Clin. 1993;34(2):99-105.
Isla de Toas is an island on the north of the Maracaibo Lake, it is known in the scientific community, for the high frequency of sickle cell disease, in a population with caucasoid phenotype. The purpose of the present work was to determine the frequency of sickle cell anemia in the population of Cuatro Bocas, situated 35 km from the southwest of Isla de Toas. The town is the center of confluence of a rural population constituted mainly of farmers. The sample consisted of 870 persons of both sexes, aged from 8 months to 66 years. The presence of the sickling phenomenon was determined in all the individuals, and hemoglobin electrophoresis in agarose was performed in all the positive samples. The following results were obtained: fifty-six cases (6.4%), showed drepanocytic changes, and forty-six of them were haemoglobin A/S, 8 were S/S and 2 were S/C. The higher frequency of hemoglobin S was in adolescents and adults. The family backgrounds suggest an insular origin of the sickle cell gene. About 75% of the affected population was ignorant of this condition. The hemoglobin values were lower in the individuals with the sickle cell disease (p < 0.05), than in the normal persons. Iron deficiency in adolescents was suspected because or their low hemoglobin values. The results indicate that the sickle cell gen is expanding to the nearest communities of the Mara county. It is important to consider that the findings of the present work should serve as an alert to the Public Health authorities, and that education of the population is important in order to prevent the spreading of the disease.
托阿斯岛是位于马拉开波湖以北的一个岛屿，在科学界，它因白种人表型人群中镰状细胞病的高发病率而闻名。本研究的目的是确定位于距托阿斯岛西南35公里处的夸特罗博卡斯镇人群中镰状细胞贫血的发病率。该镇是一个主要由农民组成的农村人口的汇聚中心。样本包括870名男女，年龄从8个月到66岁。对所有个体进行镰变现象检测，并对所有阳性样本进行琼脂糖血红蛋白电泳。结果如下：56例（6.4%）出现镰状细胞变化，其中46例为血红蛋白A/S型，8例为S/S型，2例为S/C型。血红蛋白S在青少年和成年人中的频率较高。家族背景表明镰状细胞基因起源于该岛。约75%的患病人群对这种疾病一无所知。镰状细胞病患者的血红蛋白值低于正常人（p<0.05）。由于青少年血红蛋白值较低，怀疑他们存在缺铁情况。结果表明，镰状细胞基因正在向马拉县最近的社区扩散。必须认识到，本研究结果应向公共卫生当局发出警示，而且对人群进行教育对于预防疾病传播很重要。
