Jurnal Internasional Keadaan sel sabit saat ini: implikasi untuk konseling reproduksi dan genetik

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Jurnal Internasional Keadaan sel sabit saat ini: implikasi untuk konseling reproduksi dan genetik

Abstract

Sickle cell trait (SCT) is unique among career countries identified during screening for newborns. Unlike other heterozygous countries for rare recessive diseases, SCTs are very common in all regions of the world, making sickle cell disease one of the most common monogenetic diseases in the world. Because of this high frequency, reproductive counseling is very important. In addition, unlike other career countries, SCT appears to be a risk factor for several clinical complications, such as extreme limb injuries, chronic kidney disease, and venous thromboembolism. Increasing knowledge about these clinical outcomes can help inform genetic counseling recommendations. Extension of research and clinical efforts is needed to ensure that promises of modern medicine and precision can be sent to millions of SCT operators and their children.

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