EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Eur J Hum Genet. 2015 Apr;23(4):426-37. doi: 10.1038/ejhg.2014.131. Epub 2014 Jul 23.


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.

MeSH terms

  • Alleles
  • Female
  • Genetic Testing / standards
  • Genetic Variation
  • Genome-Wide Association Study
  • Genotype
  • Hematology / standards
  • Hemoglobin A / genetics
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / genetics*
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Practice Guidelines as Topic*
  • Pregnancy
  • Prenatal Diagnosis / standards*
  • Sequence Analysis, DNA


  • Hemoglobin A