Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"Hemoglobinopathies"”.
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Rheological aspects of sickle cell anemia and related hemoglobinopathies
To evaluate the rheological behavior of certain hemoglobinopathies with respect to oxygen tension, the concept of optimum hematocrit was employed. The optimum hematocrit is defined as the hematocrit at which the erythrocyte flow rate is the greatest. It therefore represents the optimum oxygen …
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The Roles of Krüppel-like Transcription Factors KLF1 and KLF2 in Mouse Embryonic and Human Fetal Erythropoiesis
Hemoglobinopathies are some of the most common monogenic disorders in the world, affecting millions of people and representing a growing burden on health systems worldwide. Although the pathophysiology of sickle cell anemia and beta-thalassemia, two of the most common hemoglobinopathies, have been …
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The Role of DNA Methylation and Methyl Binding Domain Protein 2 in the Regulation of Human Embryonic and Fetal Beta Type Globin Genes
… of fetal hemoglobin for the treatment of hemoglobinopathies.
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Use of the Masimo Rainbow Noninvasive Hemoglobin Measurement Technology for Children with Sickle Cell Disease
… in serious errors, especially in patients with hemoglobinopathies. Although multiwavelength pulse oximeters have been the subject of research in the past, the first multiwavelength instruments did not reach the commercial medical market until 2005. More recently, the new ‘Rainbow Technology’ …
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Sickle cell disease in Cape Town: a perspective from two regional hospitals
Background: Inherited hemoglobinopathies are a global health burden. Sickle cell disease (SCD) is the most common genetic disorder of haemoglobin in Africa but is uncommon in the South African population. Objectives This study aimed to describe the presentation and experience managing paediatric …
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Sindromi drepanocitiche: studio di fattibilità di strategie di prevenzione e rimodellamento della rete assistenziale in un contesto in evoluzione
… study support the notion that the healthcare for hemoglobinopathies can benefit from a specific prevention program as neonatal haemoglobinopathies newborn screening despite the logistic problems and economic constraints. The development of prevention as the same time as specific clinical program …
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Caratterizzazione strutturale e funzionale dei sistemi emoglobinici di due specie di pesci (Mugil cephalus e Ophisurus serpens) e di due varianti emoglobiniche umane (HbRoma e HbF-SS-Monserrato)
… in an apparently normal newborn baby during an hemoglobinopathies survey at birth in North Sardinian population. Sequencing of the γ globin genes revealed the TGT CGT transition at codon 93 in one of the two Gγ genes which causes the Arg for Cys amino acid replacement at position 93. The …
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Συσχέτιση γονιδιωματικών βιοδεικτών σε γονίδια της οικογένειας KLF με τα επίπεδα της εμβρυικής αιμοσφαιρίνης στον άνθρωπο : προεκτάσεις στην εξατομίκευση της θεραπείας με υδροξυουρία ασθενών με β-τύπου αιμοσφαιρινοπάθειες
Οι αιμοσφαιρινοπάθειες, συμπεριλαμβανομένης της δρεπανοκυτταρικής αναιμίας και της β-θαλασσαιμίας, συγκαταλέγονται ανάμεσα στις πλέον κοινές μονογονιδιακές διαταραχές παγκοσμίως. Γνώρισμά τους είναι οι ανωμαλίες είτε στη δομή είτε στην ποσότητα μιας εκ των δύο σφαιρινικών υπομονάδων α και β. Ως και …
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Λειτουργική μελέτη του ρόλου νέων γονιδίων στην αύξηση των επιπέδων της εμβρυικής αιμοσφαιρίνης του ανθρώπου
Οι αιμοσφαιρινοπάθειες, κυρίως, η δρεπανοκυτταρική αναιμία και η β-θαλασσαιμία, αποτελούν τις πιο κοινές μενδελικές ασθένειες, ενώ επίσης θεωρούνται, ακόμη και σήμερα, από τα πιο κρίσιμα προβλήματα υγείας παγκοσμίως. Ο μοριακός χαρακτηρισμός, τόσο της δρεπανοκυτταρικής αναιμίας, όσο και της …
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Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
… screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with consanguineous marriages. Conversely, there is an absence of a comprehensive national premarital screening programme to identify individuals …