Causes of Birth of More Than One Thalassemia Major Patient in Families in South-east of Iran: Lessons for Prevention Programs

Background: Beta-thalassemia major (TM) is one of the most common genetic diseases in Iran. Despite some efforts to reduce the incidence of TM, its incidence is still relatively high in some areas of the country. Methods: This cross-sectional study was performed on 635 families who had children with TM. The families that had more than one child with TM were enrolled. A demographic data questionnaire and a checklist containing queries about the reasons for the birth of the second or subsequent TM children were completed by each family. Finally, the data were analyzed using SPSS version 16. Results: Among the families that had more than one child with TM, 90, 23, and three families had two, three, and four children with the disease, respectively. Of the 261 patients studied, 125 (47.9%) and 136 (52.1%) had been born prior and after the implementation of the pre-marital screening program for beta-thalassemia in Iran, respectively. Also, in 29.4% of these families, parents were unaware of having thalassemia minor. In other cases, factors such as lack of knowledge about screening tests (14.0%), lack of financial compliance (13.2%), late referral for genetic tests (11.8%), and not undergoing screening tests despite recommendations (9.6%) were among the reasons declared by the families. In addition to these, religious and cultural reasons should also be mentioned as effective factors. Conclusions: This study showed that in only about 30% of the studied families, the parents were unaware of having thalassemia minor, and in other families, miscellaneous reasons were involved in the birth of the second or subsequent child with TM. In some cases, despite sufficient parental knowledge about the possibility of giving birth to a child with TM, no action was taken to prevent this event.