Antenatal and neonatal haemoglobinopathy screening in the UK: review and economic analysis.

Iron chelation therapy: Clinical effectiveness, economic burden and quality of life in patients with iron overload

“…Among the four published studies we identified, [21][22][23][24] only one 22 reported the mean annual ICT per-patient cost, which was estimated to range from $12,719 to $24,845 (USD 1998), but only the costs associated with DFO and home healthcare services were included. In another of these studies, 24 the lifetime cost of DFO was estimated to be about $63,000 (USD 1996).…”

“…Only four studies were identified that contained data related to the costs of infused ICT. [21][22][23][24] On the basis of the literature, a single composite list of cost variables (such as drug, equipment, monitoring toxic effects, and psychotherapist) was created to serve as the basis for the health economics component of the case report form. Frequency of use and unit cost data for each of these variables were identified from the literature, this study, administrative databases, and medical supply catalogues.…”

Potential impact of newborn screening for cystic fibrosis on child survival: A systematic review and analysis

“…Economic analyses of SCD projected a reduction in mortality of 1.0 per 100 to 2.4 per 100 children with SCD resulting from earlier initiation of antibiotic prophylaxis and the prevention of sepsis. [32][33][34][35] Approximately 1000 US infants are born each year with sickle cell anemia, the form of SCD for which early prophylaxis has been demonstrated to reduce mortality, 36 compared with approximately 800 children born with CF without MI. 11 Mortality differentials of 2 per 100 for both disorders imply approximately 20 SCD-related deaths and 15 CF-related deaths each year among US children preventable by NBS, although reliable data to estimate the actual extent of mortality reduction are lacking.…”

Genomics in Cyprus: Challenging the social norms

“…This is done routinely as part of obstetric care. A woman with an MCH reading of o27 pg is considered highly likely to have the thalassaemia trait [29]. Further analysis reveals whether she carries the b-or d-Thalassaemia, and partner testing may follow.…”

“…In the UK, the notion of a programme that targets a specific ethnic group is frowned upon because it would focus on minorities and advocate measures that are expected to be culturally unacceptable. An in-depth review of haemoglobinopathy screening programmes in the UK [29] revealed that on the whole, Northern Europeans, Italians, and Cypriots were five to six times more likely to accept PND than Black, Bangladeshi, or Pakistani women. Not surprisingly, Petrou and Modell [16] found lower rates of screening and counselling among atrisk sub-populations due to failures of information delivery, screening, and counselling.…”