Article
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
International journal of laboratory hematology - 1 Sept 2022
Harteveld Cornelis L, Achour Ahlem, Arkesteijn Sandra J G, Ter Huurne Jeanet, Verschuren Maaike, Bhagwandien-Bisoen Sharda, Schaap Rianne, Vijfhuizen Linda, El Idrissi Hakima, Koopmann Tamara T
Abstract excerpt
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...
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