The hemoglobinopathies, molecular disease mechanisms and diagnostics.

ABSTRACT: Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for preconception and antenatal carrier screening, with the option of prenatal diagnosis are considered beneficial in many endemic countries. With the development of genetic tools such as Array analysis and Next Generation Sequencing in addition to state of the art screening at the hematologic, biochemic and genetic level, have contributed to the discovery of an increasing number of rare rearrangements and novel factors influencing the disease severity over the recent years. This review summarizes the basic requirements for adequate carrier screening analysis,

SUBMITTER: Harteveld CL 

PROVIDER: S-EPMC9542123 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature