Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
European journal of human genetics : EJHG - 1 Apr 2015
Traeger-Synodinos Joanne, Harteveld Cornelis L, Old John M, Petrou Mary, Galanello Renzo, Giordano Piero, Angastioniotis Michael, De la Salle Barbara, Henderson Shirley, May Alison
Abstract excerpt
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...
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