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Premarital screening for b-thalassaemia in Southern Iran: options for improving the programme

Authors: Mehran Karimi, Nima Jamalian, HoomanYarmohammadi, Abdolrasoul Askarnejad, Abdolreza Afrasiabi and Alireza Hashemi

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Background b-thalassaemia is a preventable disease. Iran has about 20,000 homozygote
b-thalassaemia patients and 3,750,000 carriers.
Objective To assess the 10-year results of the screening programme, which has been operating in
Southern Iran since 1995.
Methods: All couples wanting to marry were required to be checked for b-thalassaemia by their red
blood cell indices in order to receive a permit for marriage registration. The results were reported to the
nearest counselling team. If the results were conspicuous, haemoglobin A2 (HbA2) and, in some
subjects, Hb electrophoresis was performed. Couples in which both partners were carriers received
counselling. For those who, in spite of the recommendation, decided to marry, prenatal diagnosis and
termination of pregnancy in case of an affected fetus was offered. The latter was offered only in the last
three years.
Results: In 1995, 1999 and 2004, 296, 94 and 56 b-thalassaemia homozygotes, respectively, were
born (2.53, 1.07 and 0.82 patients per 1000 births).
Discussion This programme has decreased the birth prevalence of b-thalassaemia, but has
unfortunately not eliminated the disease altogether. The reasons for the birth of new cases, in spite
of the screening programmes, are: (i) premarital screening programme started in 1995; therefore,
carrier couples who married before this did not receive counselling and gave birth to homozygote
b-thalassaemia children; (ii) unwanted pregnancy among the carrier couples; (iii) the couples knew
about their problem, but they married for cultural and religious causes (illegal marriages).