Patient preferences were not discussed. Background papers providing critical appraisal of the evidence and tentative recommendations prepared by the chapter author were pre-circulated to the members. Consensus was reached on final recommendations. Benefits, Harms, and Costs Many categories of hemoglobinopathies, both thalassemias and sickle cell disease, exist and have varying degrees of morbidity and mortality. Tests are very accurate.
Prenatal diagnosis is also very accurate using chorionic villus sampling or amniocentesis samples.
Although genetic counselling increases knowledge of carrier status, no evidence exists that shows changes in reproductive behaviours and incidence of births of infants with hemoglobin disorders. One European survey showed a decreased incidence of birth of infants with thalassemia after universal screening for carrier status. Some cost data show that universal screening is more cost-effective than targeted screening. Targeted screening may also miss cases of hemoglobinopathies. Citations in support of individual recommendations are identified in the guideline text.