..., followed by supervision of ambulatory treatment modalities; (3) carrier screening and reproductive counseling for Tay-Sachs and β-thalassemia diseases; (4) a spectrum of feasibility (research) studies (e.g., screening for biotinidase deficiency, neuroblastoma, hemoglobinopathies, and cystic fibrosis...

... screening Carrier screening Iron overload Hereditary hemochromatosis (HH) is a recessively inherited disorder resulting from mutations in the HFE gene [ 1 ]. It predisposes the body to storage of excess iron that accumulates in various tissues, such as the skin, heart and liver. The accumulation...

...Francis A.M. Poppelaars; Lidewij Henneman; Herman J. Adèr; Martina C. Cornel; Rosella P.M.G. Hermens; Gerrit van der Wal; Leo P. ten Kate Background: Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples...

...Lidewij Henneman; Inge Bramsen; Linda van Kempen; Manita B. van Acker; Gerard Pals; Henriette E. van der Horst; Herman J. Adèr; Henk M. van der Ploeg; Leo P. ten Kate Objective: To investigate the feasibility and acceptability of different modes of offering preconceptional carrier screening...

... variables in CF carrier screening is the sensitivity of the screening test. Over 800 different mutations in the CF gene have been found already [ 11 ]. The ΔF508 mutation is the most common, but there is a marked variation in the proportion of ΔF508 among different geographic populations (from 0.26 to 0.92...

...: Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med 1996;5:336–340. 10. Richards M: Lay and professional knowledge of genetics and inheritance. Publ Understand Sci 1996;5:217–230. 11. Cho MK, Arruda M, Holtzman NA: Educational material about genetic...