Lorey F W, Arnopp J, Cunningham G C
Genetic Disease Branch, California Department of Health Services, Berkeley 94701, USA.
Genet Epidemiol. 1996;13(5):501-12. doi: 10.1002/(SICI)1098-2272(1996)13:5<501::AID-GEPI6>3.0.CO;2-4.
It has been well known for many years that Black Americans are at increased risk for sickle cell disease and that individuals of Mediterranean ancestry are at increased risk for thalassemias. Beyond this, however, complete assessments of the epidemiology of hemoglobinopathies in Americans have been constrained by lack of large enough sample size, incomplete diagnostic work or testing inadequacies, or missing or misleading ethnicity data. California began universal, mandatory screening of all infants born in the state in 1990, and by January 1996, had screened over 3.3 million infants of various ethnic backgrounds. New information is now available on groups at increased risk for disease, as well as carrier status. The overall prevalence of sickle cell disease (all types) remains high in Blacks at 1 per 396 births, but is lower than expected (from east coast/ Caribbean published data) for Hispanics at 1 m 36,000 births or from previously published data on other higher risk groups such as Middle Eastern (no cases in over 22,000 screens) or Asian Indian (1 case in 16,000 screens). The distribution of different types of sickle cell disease has also changed, with increased numbers of Hb SE disease resulting from multiethnic partnerships. Demographic trends in California have led to a major sift in the at-risk groups for major beta thalassemias, with the majority of cases detected in families of Asian, Southeast Asian, and Asian Indian ancestry. The "new" hemoglobinopathy condition in California, Hb E/Beta. Thalassemia, is found almost exclusively in Southeast Asians with a prevalence of 1 in every 2,600 births. Carrier conditions are found in virtually every ethnic category, with higher than expected rates in non-Hispanic Whites (1 per 600 births).
多年来人们都清楚地知道，美国黑人患镰状细胞病的风险增加，而地中海血统的人患地中海贫血的风险增加。然而，除此之外，由于样本量不够大、诊断工作不完整或检测不足，或者缺乏或误导性的种族数据，对美国人血红蛋白病流行病学的全面评估受到了限制。加利福尼亚州于1990年开始对该州所有出生的婴儿进行普遍的强制性筛查，到1996年1月，已经对超过330万不同种族背景的婴儿进行了筛查。现在有了关于疾病风险增加群体以及携带者状况的新信息。镰状细胞病（所有类型）在黑人中的总体患病率仍然很高，每396例出生中有1例，但在西班牙裔中低于预期（根据东海岸/加勒比地区公布的数据），每36000例出生中有1例，或者低于之前公布的其他高风险群体的数据，如中东地区（超过22000次筛查中无病例）或亚洲印度人（每16000次筛查中有1例）。不同类型镰状细胞病的分布也发生了变化，由于多种族通婚导致Hb SE病的病例数增加。加利福尼亚州的人口趋势导致主要β地中海贫血的高危群体发生了重大转变，大多数病例在亚洲、东南亚和亚洲印度血统的家庭中被发现。加利福尼亚州“新”的血红蛋白病情况，即Hb E/β地中海贫血，几乎只在东南亚人中发现，每2600例出生中有1例。几乎在每个种族类别中都发现了携带者情况，非西班牙裔白人中的携带者率高于预期（每600例出生中有1例）。
