Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy

Abstract

To reduce the incidence of β-thalassaemia major and other severe haemoglobin-related disorders by the early identification of healthy carriers, the Centro Studi Microcitemie Roma has been organising since 1975 a prevention programme in Latium, an Italian central region. This programme entails two different types of carrier screening on a voluntary basis: a universal screening offered to secondary school students and a screening offered to young adults. In 36 years of scholastic screening (from 1975 until 2011), 1,466,100 students have been examined and 26,786 (1.8 %) carriers of non-α thalassaemia have been identified. In the extra-scholastic screening, 388, 690 adult subjects (including the carriers' relatives) have been examined and a total of 38,457 (9.9 %) carriers of non-α thalassaemia have been detected. These results demonstrate that the precocious identification of healthy carriers allowed the identification of at-risk couples and reduced to zero the birth of affected babies in the Latium native population. This programme does not involve huge resources and is relatively inexpensive and, as such, it is essential to be offered to the total Latium scholastic and extra-scholastic population, which is epidemiologically changing due to migratory fluxes from countries in which haemoglobin disorders are common.

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

“…In some countries, students and young adults have good responses for thalassemia screening. (4,14) In our study, a very positive attitude was expressed by the majority of the students toward screening for thalassemia, but what is of concern is that only one-third of the students would come for thalassemia status screening after the lecture, while two-thirds of the students would only want to be screened later in the future. Therefore, the thalassemia carrier screening program for young and unmarried women should be included in the national programs, and this may dramatically reduce the incidence of infants born with thalassemia major.…”

“…Regular educational efforts are needed to raise awareness of thalassemia in young adults at school and at the university. (14) It is suggested to screen the Hb in young adults so they can become aware of their overall health condition, specifically with the extended MCV and MCH when Hb is low. Genetic counselling for thalassemia needs to be provided alongside with confirmation of the thalassemia carrier status, so the young adult carriers are reassured of their condition.…”

“…For example, a screening program in Iran resulted in a 70% reduction in the annual birth rate of infants with thalassemia, (15) and interestingly it has been reported from Italy that screening can reduce the number of births of affected infants in the Latium native population to zero. (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.…”

“…(19) Undoubtedly public education in the community regarding thalassemia can impact on the prevalence of thalassemia and can direct the policy in the population. (14) Religion has a significant impact on the decision for screening and may also be associated with refusal for prenatal diagnosis and termination of an affected fetus. (11) In Indonesian law, an abortion is only permitted if the pregnancy is likely to result in danger to the mother's physical and mental health.…”

“…(13) Therefore, early detection of thalassemia carriers in the general population, especially in school students and young adults is encouraged. (14) The aim of the present study was to explore the knowledge and perception of thalassemia among first year medical students and their attitudes towards informed consent for thalassemia carrier testing. These students may be representative of young adults on their attitude towards managing their thalassemia carrier status.…”