Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

Abstract

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.

Increased knowledge of thalassemia promotes early carrier status examination among medical students

“…(14) Identification of carriers is also offered early in pregnancy in most developed countries due to high migration rates of populations from high thalassemia prevalence areas to West European countries. (16) Undoubtedly these studies have shown that thalassemia prevention programs including premarital and prenatal screening have been cost-effective in reducing the thalassemia prevalence. (17) One should bear in mind that it is of utmost importance to dispel the misconception about thalassemia carriers, so that this genetic disorder is not stigmatized by society.…”

ITHANET: Information and database community portal for haemoglobinopathies

“…However, demographic events, such as migration from high-prevalence areas and the consequent intermixing of populations, have contributed to the spread of haemoglobinopathies worldwide [6–8] and, consequently, their prevalence is rising in non-endemic regions, such as Northern and Western Europe and North America, posing a major challenge for researchers and health professionals. In addition, the lack of high-quality epidemiological data, the high variation of disease prevalence in different ethnic groups and in different regions within the same country, as well as general underestimates of haemoglobinopathy incidence, particularly in low-and middle-income countries, are serious impediments to appropriate policy making [9,10].…”

Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica

“…These limitations do not apply to population screening and premarital screening has successfully reduced births with beta thalassaemia in Cyprus (Angastiniotis and Hadjiminas 1981) and Sardinia (Cao et al 1996) and has led to mandatory premarital screening in Iran (Karimi et al 2007), Bahrain (Al Arrayed 2005b), Saudi Arabia (Al Hamdan et al 2007), the Palestinian territories (Tarazi et al 2007), and Cyprus (Cowan 2009) as reviewed by Giordano et al (2014). Although contrary to the WHO guidelines (WHO 1998) on compulsory genetic testing, these programmes seem to have been well accepted.…”