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Objective To evaluate the repercussions of recent changes to the cut-offs used in the first screening step of the pre-marital screening programme for thalassaemia prevention in Iran. Methods The profiles of 984 subjects referred to a genetic laboratory, and the tests of 242 parents of children with thalassaemia major were assessed for red blood cell (RBC) indices, haemoglobin (Hb) A2 levels and results of Hb electrophoresis. Results Of 407 suspected thalassaemia minor (STM) cases, 18 proved positive for thalassaemia minor on molecular analysis (18/407, confidence interval 2.6–6.9%). If the revised screening cut-offs had been used to determine who would undergo molecular analysis, two of these cases would not have been identified. Only 4.4% of suspected cases with lower than normal RBC indices (mean corpuscular volume <80 fl and mean corpuscular Hb <27 pg) and HbA2 (<3.5%) were diagnosed with thalassaemia minor. Conclusion The thalassaemia major prevention programme is performed in two separate steps. One step involves the screening of subjects and identification of β-thalassaemia minor, suspected cases for thalassaemia minor (STM), and normal subject groups. The other step concerns the identification of thalassaemia minor in the STM group. Changing the cut-offs at the first screening step does not result in significant improvement from an economic view, and is associated with significant risk at the second screening step. [ABSTRACT FROM AUTHOR]

Objective: Despite premarital screening, prenatal diagnosis and the option for voluntary termination of pregnancy, some Iranian couples continue a pregnancy with a fetus affected with beta-thalassaemia major (β-TM). We examined the reasons for this decision, to evaluate the sociocultural challenges these couples face., Methods: A retrospective evaluation of medical records of all fetuses aborted was conducted to identify those with β-TM, to determine the frequency of β-TM births and to establish the number of couples with β-thalassaemia who declined prenatal diagnosis or a termination of pregnancy in this period. We investigated the reasons for declining these options., Results: The birth prevalence of β-TM decreased from 39.38 to 2.68 in 100,000 live births from 2005 to 2010. Terminations of pregnancy for affected fetuses increased from 67 in 2005 to 135 in 2010. We identified eight couples as β-thalassaemia carriers who declined prenatal diagnosis or a termination of pregnancy. All but one couple already had a child with β-TM. The reasons for declining prenatal diagnosis were strong religious beliefs, superstition and faith in a supernatural solution in six couples. Economic and cultural factors, and previous termination of pregnancy were also mentioned as reasons by the other two couples., Conclusion: Although most of the couples had a β-TM child and related socioeconomic problems, their reasons for refusing prenatal diagnosis or termination remain a challenge for the healthcare system in Iran. Couple screening and educational programmes have effectively decreased the rates of refusal in at-risk couples in recent years.