title: [Prevention of hereditary haemoglobinopathies in The Netherlands].
abstract: Haemoglobinopathies are defects that interfere with the synthesis of haemoglobin. Parents who are both healthy carriers (heterozygotes) may produce severely affected homozygous or compound heterozygous children who can be treated only symptomatically. Offering Dutch couples at risk the possibility of primary prevention is a matter of good healthcare and its organisation deserves priority. The prevention of haemoglobinopathy is based on the provision of information to potential carriers, carrier diagnostics and counselling, services that can in principle be provided by existing public health care institutions. Three moments at which the prevention of recessive diseases can be offered are the phase of preconception, the phase of early pregnancy (prospective primary prevention) and the postnatal phase at the time of a following pregnancy (retrospective primary prevention). By providing basic information and requesting laboratory tests for the diagnosis ofhaemoglobinopathy, the general practitioner plays a crucial role in primary prevention.
authors.affiliation: Leids Universitair Medisch Centrum, Laboratorium voor Diagnostische Genoomanalyse, Hemoglobinopathieënlaboratorium, Geb. 2, S-6-P, Postbus 9600, 2300 RC Leiden. p.c.giordano@lumc.nl
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006453:Hemoglobinopathies / Q000235:genetics* / Q000517:prevention & control*; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D009426:Netherlands; D011322:Primary Prevention
chemical_list: D006454:Hemoglobins