Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work.

Abstract

This project is aimed at avoiding reproduction by pairs of thalassaemia carriers and the birth of homozygous children.During the four campaigns 138 501 students were examined, that is, 70 to 76% of those enrolled. Of these 3343 were found to be thalassaemic. Thus the overall prevalence of thalassaemia in Latium is 2.41 %, with minor fluctuations from one province to another and, above all, a slight, though definite, trend towards higher values in the southern part of Latium bordering on Campania.The screening was welcomed by the population and the thalassaemic families, there were no detectable negative side-effects, and it resulted in an increased awareness of the problem of the thalassaemias.In a previous paper the results were Received for publication 5 September 1979 In communicating the results to thalassaemic students, in the first screening the words 'suspected thalassaemia' were adopted so as not to alarm the families. However, in the later campaigns, in all cases of P-or 68-thalassaemia, the diagnosis was explicitly stated by the sentence 'presence of Pthalassaemia' in order to avoid uncertainty and lack of faith in the work.A full set of investigations was carried out on the probands' families not only when the suspected thalassaemia was of the 3 or of the 63 type but also in the presumed carriers of oc-thalassaemia. The unambiguous interpretation of their slight but definite erythrocytic alterations as being the result of cx-thalassaemia spared them the uneasiness of further diagnostic investigations and led to a decision as to whether or not to prescribe iron treatment. It was also explained to these subjects the difference between 3-and a-thalassaemia and the different implications as far as offspring were concerned.

The value of screening for beta thalassaemia trait amongst Asian Muslim school children

“…In a study from Italy it was stated that screening in schools did not create anxiety although no evidence for this comment was given (Silvestroni et al 1980). Follow-up will also be needed to find out what preventive action is taken following identification of the trait.…”

“…Ante-natal screening for thalassaemia major has been undertaken in the U.K. (Ward et al 1983), and school screening for the beta thalassaemia trait has been carried out elsewhere (Silvestroni et al 1980). Ante-natal screening can only prevent thalassaemia major by termination of pregnancy whereas screening in schools could prevent thalassaemia major by altering the choice of the marriage partner.…”

After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

“…All these possible misunderstandings are in contrast with data from this study and enquiries made among populations at risk showing that at least 80% of the well-informed multi-ethnic people in The Netherlands would choose for counseling and prevention in case of increased risk [18]. Additionally, many studies in other European, (North- and South) American and Islamic countries have shown a decrease in the number of affected children after proper information and counseling [19,20,21,22,23,24,25,26]. …”

Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands

“…The most common severe HBPs are: sickle cell disease (SCD) and thalassemia major (TM). Given their disease burden, the limited availability of therapy, and the effects on quality and duration of life, carrier testing programs have been implemented to facilitate primary prevention in many endemic countries (Silvestroni and Bianco, ; Silvestroni et al , ; Cao et al , ; Samavat and Modell, ; Leung et al , ; Bozkurt, ). Prevention is based on information, carrier screening, and counseling.…”