Global ETD Search
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Showing 1 to 4 of 4 for “"fetal haemoglobin"”.
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Genetic basis of hereditary persistence of fetal haemoglobin
… factors underlie the variations observed in fetal haemoglobin (HbF) levels. This is important as it is known that an elevated HbF level can ameliorate the symptoms of many of the haemoglobinopathies. The frequency and range of hereditary persistence of fetal haemoglobin (HPFH) in the UK …
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Characterisation of two genetic loci involved in fetal haemoglobin production: BCLIIA and HBSIL-MYB intergenic region
The continuous production of fetal haemoglobin (HbF, a2Ya) into adulthood is an ameliorating factor in sickle cell disease and B-thalassemia. We have previously mapped two quantitative trait loci (QTLs) controlling HbF levels, one in intron 2 of BCL11A gene, and the other, an intergenic region on …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… outside of the β-globin cluster associated with fetal hemoglobin (HbF) levels, number of F cell and β-thalassemia severity: the HBS1L-MYB intergenic region and the BCL11A gene. In order to understand the functional role of the associated variants at these loci we applied “Genome Wide Chromosome …
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Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs
… modifiers of disease severity, such as fetal hemoglobin (HbF) levels and αthalassemia, other genetic variants might influence specific sub-phenotypes. New treatments and management strategies accounting for these genetic and nongenetic factors could substantially and rapidly improve the …