Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

Expert Rev Mol Diagn. 2017 Mar;17(3):281-291. doi: 10.1080/14737159.2017.1285701. Epub 2017 Feb 2.


Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of prenatal diagnosis, to minimize the incidence of new cases is recognized in many countries. Areas covered: The challenges associated with identifying carrier couples using hematology-based screening, along with DNA diagnosis and prenatal diagnosis were addressed, based on a literature search and the authors expertise. Expert commentary: The hemoglobinopathies are extremely heterogeneous at the haematological, molecular and clinical level, requiring appropriately equipped and staffed laboratories with experience to support comprehensive screening and diagnosis. However complete services with adequate infrastructure to address the associated technical challenges do not exist widely, especially in low-income countries that, coincidentally, are often those with the highest frequency of hemoglobinopathies in their population. Additionally, overcoming limited public awareness, education and absence of systematic dissemination of information also constitutes a challenge. This article aims to highlight these challenges and to evaluate potential future developments that may address at least some of them, focusing mainly on the technical challenges related to molecular diagnostics.

Keywords: Hemoglobinopathies; health burden; preconception carrier screening; prenatal diagnosis; sickle cell syndromes; thalassemia.

Publication types

  • Review

MeSH terms

  • Female
  • Genetic Carrier Screening / methods*
  • Genetic Testing / methods*
  • Humans
  • Male
  • Preconception Care / methods*
  • Prenatal Diagnosis / methods*
  • Thalassemia* / diagnosis
  • Thalassemia* / genetics