Assessing the impact of screening and counselling high school children for <i>β</i>-thalassaemia in India

b-Thalassaemia is the commonest single gene disorder in India. It has been estimated that around 10,000–12,000 children with b-thalassaemia major are born each year. 1 A programme for education, screening and genetic counselling of high school students was undertaken between 1984 and 1988. In total, 5682 school children (age – 11–18 years) from 75 schools in Mumbai city were screened after obtaining informed consent from their parents. Of the 5682 children, 153 (prevalence 2.7%) were found to be b-thalassaemia heterozygotes. A few carriers of haemoglobin (Hb) S, Hb D, Hb E, db thalassaemia and Hereditary Persistance of Fetal Haemoglobin (o1.0%) were also identified. 2 Screening and counselling family members (parents and other siblings) had been possible in 71 of the 153 children who were carriers of b-thalassaemia. All of them were given report cards as well as a booklet giving information on thalassaemia. After a gap of 20 years, an attempt was made to follow-up these 71 families to evaluate the impact of screening this group. The results are reported here. Letters were first sent asking the families to attend a follow-up clinic, but the response was very poor. Home visits were then made by a medical social worker and a well-designed proforma was used to gather information on the outcome of screening. Specific questions were asked to evaluate whether they remembered having been tested in school and were aware of their carrier status, how many of them had arranged for their partners to be tested before marriage or their spouses tested after marriage and if any thalassaemia major children were born. Forty-seven of the 71 families could be contacted. Eighteen families had moved residence and in six cases the addresses given were incorrect. The students screened were now in the age group of 30–38 years. The response of the individuals screened and/or their parents is summarized in Table 1. Only 12 of the 47 individuals contacted (26%) recollected that they were b-thalassaemia carriers. The others vaguely remembered that some blood test was carried out in school but had lost their reports. None of the 41 individuals who were now married had revealed their carrier status or had their partners tested before marriage. However, 11 individuals had had their spouses tested for haemoglobinopathies after marriage. Thirty-four of these couples had children but only four families had had their children screened. A thalassaemia major child was born in one family in spite of screening. Screening for b-thalassaemia and other haemoglobinopathies is a prerequisite for a community control programme. In India, both retrospective and prospective screening had been carried out in different target groups. 3–5 However, the long-term impact of screening has never been evaluated. This has immense relevance as a lot of time, effort and money goes into such programmes. A similar programme on screening over 25,000 high school students, in Montreal, Canada showed that virtually all the carriers identified in the high

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