摘要
Increasing multi-ethnicity in countries endemic or non-endemic for hemoglobinopathies has brought fundamental changes to the screening strategies for these traits.While in the past pre-screening on microcytosis was a reasonable method to economize upon follow up analysis,selecting low mean corpuscular volume means today missing all those normocytic carriers of common traits associated with severe conditions.Therefore,blood count should not be considered as a pre-selection tool but as additional information to be used for the interpretation of the provisional results,obtained by routine high throughput separation and measurement of the hemoglobin(Hb)fractions.Moreover,the moment of screening should be well planned depending on the social and cultural situation.Screening for genetic diseases in a modern multi-ethnic society should be offered to couples seeking progeny when both partners are more likely to be equally concerned with the good health of their children.In several societies screening before marriage and changing partner choice is culturally accepted.However,new generations are bound to disagree with these more or less imposed conditions and may decide not to renounce the choice of their partner asking for other preventive methods.In addition,a carrier state during pre-marital screening may in some cultures stigmatize the carrier,mostly the female with adverse social consequences.Therefore,screening for hemoglobinopathies early in pregnancy is the most sensible alternative in modern countries.Adding hemoglobinopathies to the routine rhesus screening using a simple separation of the Hb fractions on dedicated devices(high performance liquid chromatography or capillary electrophoresis)will virtually identify all female carriers of all common traits responsible for the severe conditions mainly sickle cell disease and thalassemia major in time for partner analysis,counseling and primary prevention.
Increasing multi-ethnicity in countries endemic or non-endemic for hemoglobinopathies has brought fundamental changes to the screening strategies for these traits. While in the past pre-screening on microcytosis was a reasonable method to econo-mize upon follow up analysis, selecting low mean corpuscular volume means today missing all those normocytic carriers of common traits associated with severe conditions. Therefore, blood count should not be considered as a pre-selection tool but as additional information to be used for the interpretation of the provisional results, obtained by routine high throughput separation and measurement of the hemoglobin （Hb） fractions. Moreover, the moment of screening should be well planned depending on the social and cultural situation. Screening for genetic diseases in a modern multi-ethnic society should be offered to couples seeking progeny when both partners are more likely to be equally concerned with the good health of their children. In several societies screening before marriage and changing partner choice is culturally accepted. However, new generations are bound to disagree with these more or less imposed conditions and may decide not to renounce the choice of their partner asking for other preventive methods. In addition, a carrier state during pre-marital screening may in some cultures stigmatize the carrier, mostly the female with adverse social consequences. Therefore, screening for hemoglobinopathies early in pregnancy is the most sensible alternative in modern countries. Adding hemoglobinopathies to the routine rhesus screening using a simple separation of the Hb fractions on dedicated devices （high performance liquid chromatography or capillary electrophoresis） will virtually identify all female carriers of all common traits responsible for the severe conditions mainly sickle cell disease and thalassemia major in time for partner analysis, counseling and primary prevention.
