Marcheco-Teruel Beatriz
MEDICC Rev. 2019 Oct;21(4):34-38. doi: 10.37757/MR2019.V21.N4.6.
Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. In 1982, the Cuban public health system established the Sickle Cell Anemia Prevention Program, which aims to prevent the disease through identification of carrier couples and antenatal diagnosis of fetuses with disease-associated genotypes. In 1982-2018, hemoglobin genotypes were tested in 4,847,239 pregnant women. Of these, 168,865 (3.5%) were found to be carriers or to have sickle cell disease. During the same period, 8180 at-risk couples were identified, of whom 79.2% agreed to an antenatal study for detection of the sickle cell gene in the fetus. Among fetuses diagnosed, 20.1% had the SS genotype, the most clinically severe; 76.2% of the associated couples decided to interrupt the pregnancy. This program has resulted in a 3-fold reduction in prevalence of sickle cell disease in Cuba, a 10-fold reduction in the number of infants born with it each year, and a 16-year average increase in life expectancy of sickle cell disease patients of both sexes. Key contributors to these results have been universal screening of pregnant women in primary care, installation of diagnostic laboratories in every province, genetic counseling for couples, testing of fetal DNA (allowing couples to decide whether to continue the pregnancy if the fetus tests positive for the disease) and guaranteed multidisciplinary clinical care for patients. The Cuban experience shows that a middle-income country can mitigate the impact of a genetic disease through a universal preventive program based in primary care, which also pays particular attention to afflicted patients. KEYWORDS Sickle cell anemia, sickle cell disease, sickle cell disorders, hemolytic anemia, sickle cell trait, sickle cell hemoglobin C disease, HbS disease, prevention, antenatal screening, preventive health services, Cuba.
镰状细胞贫血是古巴最常见的遗传性疾病。平均而言，每33名古巴人中就有1人是这种严重溶血性贫血的携带者，该病可能导致早亡。1980年初，古巴该病的发病率经计算为每1600例出生中有1例。1982年，古巴公共卫生系统设立了镰状细胞贫血预防项目，旨在通过识别携带致病基因的夫妇以及对具有疾病相关基因型的胎儿进行产前诊断来预防该疾病。1982年至2018年期间，对4847239名孕妇进行了血红蛋白基因型检测。其中，168865人（3.5%）被发现是携带者或患有镰状细胞病。在同一时期，识别出8180对有风险的夫妇，其中79.2%同意进行产前检查以检测胎儿的镰状细胞基因。在被诊断出的胎儿中，20.1%具有SS基因型，这是临床上最严重的；76.2%的相关夫妇决定终止妊娠。该项目使古巴镰状细胞病的患病率降低了3倍，每年患该病出生的婴儿数量减少了10倍，男女镰状细胞病患者的平均预期寿命增加了16岁。取得这些成果的关键因素包括在初级保健中对孕妇进行普遍筛查、在每个省份设立诊断实验室、为夫妇提供遗传咨询、检测胎儿DNA（如果胎儿检测出疾病呈阳性，允许夫妇决定是否继续妊娠）以及为患者提供有保障的多学科临床护理。古巴的经验表明，一个中等收入国家可以通过基于初级保健的普遍预防项目来减轻遗传病的影响，该项目还特别关注患病患者。关键词：镰状细胞贫血、镰状细胞病、镰状细胞疾病、溶血性贫血、镰状细胞性状、镰状细胞血红蛋白C病、HbS病、预防、产前筛查、预防性健康服务、古巴
