Living with Sickle Cell or Beta Thalassaemia Trait: implications for identity and social life: summary of research findings for health and social care professionals

Abstract

Carriers of recessive gene disorders are increasingly a focus of public health interventions, facilitated by the growth and greater social acceptance of new genetic and reproductive technologies. The NHS-coordinated twin antenatal and neonatal screening programme for sickle cell and thalassaemia disorders, formalised in 2002 in England, identifies thousands of ‘healthy carriers’(adult and children) each year. Current estimates suggest that there are 240,000 sickle cell carriers (predominantly among people of African and African-Caribbean origins) and 214,000 carriers of thalassaemia disorders (largely of Greek, Turkish, Cypriot, South and South-East Asian, and Arab origins). While newborn screening helps early therapeutic intervention for babies affected by sickle cell disorders, it also raises significant social, ethical, psychological and medical issues by inadvertently picking up some type of carriers (Laird, Dezateux and Anionwu, 1996; Oliver et al., 2009).(The current heel prick test for newborn babies does not identify thalassaemia disorders) There are currently no consistent guidelines supporting how parents are informed about their baby’s carrier status and the level of counselling and support offered to them to address any potential concerns (Lempert 2004). Interestingly, carrier screening of babies/children sits uncomfortably with the cautious approach recommended by the Human Genetics Commission in (2010), since it has no therapeutic benefit and potentially compromises their right to reproductive choices as an adult.