Publications by authors named "Mia E Sarri"
KLF transcription factor 1 (KLF1) and GATA binding protein 1 (GATA1) are transcription factors (TFs) that initiate and regulate transcription of the genes involved in erythropoiesis. These TFs possess DNA-binding domains that recognize specific nucleotide sequences in genes, to which they bind and regulate transcription. Variants in the genes that encode either KLF1 or GATA1 can result in a range of hematologic phenotypes-from benign to severe forms of thrombocytopenia and anemia; they can also weaken the expression of blood group antigens.
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- Non-invasive prenatal tests (NIPT) using massively parallel sequencing (MPS) aim to predict fetal blood group antigens for women who are alloimmunised, specifically targeting multiple nucleotide variants.
- The study involved sequencing maternal blood samples from 33 cases and analyzing genetic data to match outcomes against established methods, with a focus on detecting low-frequency variants.
- Results showed a 97.2% agreement with validated methods, highlighting the effectiveness of MPS for screening various blood groups and the potential to enhance care for alloimmunised women, while caution is advised for specific Rh factor cases.