Parental awareness and cascade screening of thalassaemia

Abstract

INTRODUCTION: A strategy to prevent new births with thalassaemia major in countries where abortion is illegal is to screen the at risk population for the carrier state and advocating "safe marriages". One of the highest risk groups for the thalassaemia gene are relatives of individuals with a child with 'thalassaemia major'. 'Cascade screening' of such relatives is an effective way to initiate and precede a much wider population screen. We wanted to identify the level of awareness of disease transmission and the extent to which cascade screening was already happening in Sri Lanka. METHODS: A self-administered questionnaire was used on 100 parents of children with transfusion dependent thalassaemia attending the thalassaemia units at Ragama and Kurunegala from 1st January to 31st December 2009. RESULTS: 73% fathers and 91% mothers knew their carrier state and 59 (64.1%) fathers and 98 (88.1%) mothers knew their carrier state bad caused the illness to the child. Mothers had 382 and fathers had 291 siblings. Those siblings had 714 and 610 children respectively. 40 (10.8%) of maternal siblings and 15 (5%) of the paternal siblings had been screened for thalassaemia. Only 48 (6.72%) of maternal side children and 23 (3.77%) of paternal side children had been screened. CONCLUSION: Screening of relatives of patients with thalassaemia in this group of people seems to be limited. A screening programme targeting those at high risk is necessary.