Hemoglobinopathies and preimplantation diagnostics

Int J Lab Hematol. 2022 Sep:44 Suppl 1:21-27. doi: 10.1111/ijlh.13851. Epub 2022 Apr 20.


Hemoglobinopathies constitute some of the most common inherited disorders worldwide. Manifestations are very severe, patient management is difficult and treatment is not easily accessible. Preimplantation genetic testing for monogenic disorders (PGT-M) is a valuable reproductive option for hemoglobinopathy carrier-couples as it precludes the initiation of an affected pregnancy. PGT-M is performed on embryos generated by assisted reproductive technologies and only those found to be free of the monogenic disorder are transferred to the uterus. PGT-M has been applied for 30 years now and β-thalassemia is one of the most common indications. PGT may also be applied for human leukocyte antigen typing to identify embryos that are unaffected and also compatible with an affected sibling in need of hemopoietic stem cell transplantation. PGT-M protocols have evolved from PCR amplification-based, where a small number of loci were analysed, to whole genome amplification-based, the latter increasing diagnostic accuracy, enabling the development of more generic strategies and facilitating multiple diagnoses in one embryo. Currently, numerous PGT-M cycles are performed for the simultaneous diagnosis of hemoglobinopathies and screening for chromosomal abnormalities in the embryo in an attempt to further improve success rates and increase deliveries of unaffected babies.

Keywords: HBB; IVF; PGT-M; embryo biopsy; hemoglobinopathies.

Publication types

  • Review

MeSH terms

  • Embryo Transfer / methods
  • Female
  • Genetic Testing / methods
  • Hemoglobinopathies* / diagnosis
  • Hemoglobinopathies* / genetics
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis* / methods
  • beta-Thalassemia* / genetics