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

Abstract

Background: β-thalassaemia is a preventable disease. Iran has about 20,000 homozygote β-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 β-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 β-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 β-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 β-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).

Two decades of pre-marital screening for beta-thalassemia in central Iran

“…In one study in Southern Iran, the birth prevalence of betathalassemia major was 253 cases per 100,000 births in 1995 and 82 per 100,000 births in 2004 (Karimi et al 2007). Based on our results, the birth prevalence of major betathalassemia in the Isfahan Province was much less than in Southern Iran, but it decreased by about 29 fold at the end of 2010 compared with 1997, when the premarital screening program was introduced in the Iranian Healthcare System.…”

Carrier screening for Beta-thalassaemia: a review of international practice

“…3 Nevertheless, some countries including Iran, Saudi Arabia, Palestinian Territories and Cyprus have laws in place making premarital screening for haemoglobinopathies mandatory for all couples before they are given approval to get married. 9,[20][21][22][23][24][25][26] This raises ethical questions, as couples are unable to voluntarily decide for themselves whether they would like to undergo genetic screening. Thalassaemia carrier screening has been included as part of an existing mandatory premarital blood test in Iran since 1991.…”

“…Thalassaemia carrier screening has been included as part of an existing mandatory premarital blood test in Iran since 1991. [22][23][24] This form of mandatory premarital thalassaemia screening also began in the Gaza Strip in 2000 9 and in Saudi Arabia in 2003. 20 Carrier couples receive advice on the options available to them, one of which is cancellation of marriage, and they can then decide whether to marry each other.…”

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

“…Premarital screening can potentially reduce the burden of inherited hemoglobin diseases by reducing the number of high-risk marriages 89. This was proven to be beneficial in nearby countries with similar endemicity levels of hemoglobinopathies 10–12. Because of the burden on the healthcare system and effect on the quality of life in patients with sickle-cell disease or β-thalassemia, premarital genetic screening was mandated in Saudi Arabia in 2004 13.…”