title: EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
abstract: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.
authors: Department of Medical Genetics, Choremeio Research Laboratory, University of Athens, St Sophia's Children's Hospital, Athens, Greece.
authors: Joanne
authors: J
authors: Traeger-Synodinos
authors: Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Cornelis L
authors: CL
authors: Harteveld
authors: National Haemoglobinopathy Reference Laboratory, Molecular Haematology, John Radcliffe Hospital, Oxford, UK.
authors: John M
authors: JM
authors: Old
authors: Haemoglobinopathy Genetics Centre, University College London Hospitals NHS Foundation Trust and Institute of Women's Health, University College London, London, UK.
authors: Mary
authors: M
authors: Petrou
authors: Ospedale Regionale Microitemie, Via Jenner (sn), Cagliari, Italy.
authors: Renzo
authors: R
authors: Galanello
authors: Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Piero
authors: P
authors: Giordano
authors: Thalassaemia International Federation, Nicosia, Cyprus.
authors: Michael
authors: M
authors: Angastioniotis
authors: UK NEQAS, General Haematology, Watford, UK.
authors: Barbara
authors: B
authors: De la Salle
authors: National Haemoglobinopathy Reference Laboratory, Molecular Haematology, John Radcliffe Hospital, Oxford, UK.
authors: Shirley
authors: S
authors: Henderson
authors: Department of Haematology, Cardiff University Medical School, University Hospital of Wales, Cardiff, UK.
authors: Alison
authors: A
authors: May
mesh_terms: D000483:Alleles; D005260:Female; D005820:Genetic Testing / Q000592:standards; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006405:Hematology / Q000592:standards; D006441:Hemoglobin A / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards*; D017422:Sequence Analysis, DNA
chemical_list: D006441:Hemoglobin A