Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

International Journal of Environmental Research and Public Health

Piero C. Giordano¹  Cornelis L. Harteveld² 

[1] Human and Clinical Genetics Department, Leiden University Medical Center, P.O. Box 9600, Leiden 2333 ZC, The Netherlands;

关键词: hemoglobinopathy;    thalassemia;    sickle cell disease;    prevention;    ethnicity;   

DOI  :  10.3390/ijerph110606136

来源: mdpi

【 摘 要 】

Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.