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Showing 1 to 20 of 21 for “"Thalassaemia"”.
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Novel Approaches to Thalassaemia Gene Therapy
… disorders worldwide. Gene therapy for p-thalassaemia is particularly challenging given the requirement for high p-globin chain production in a lineage-specific manner. Advances in lentiviral vector (LV) technology, together with efforts to incorporate erythroid-specific regulatory …
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The molecular basis of thalassaemia in Sri Lanka
… that approximately 2650 patients with l3-thalassaemia major and 956 with HbE/I3-thalassaemia should consume >5% of the current health budget for treatment of these patients. Patients with the phenotype of severe thalassaemia, from seven centres, were analysed to understand the molecular …
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The molecular basis of alpha thalassaemia in a South African population
The molecular basis of alpha thalassaemia in the so-called 'Cape Coloured' population of the Western Cape was investigated. Restriction endonuclease digestion, Southern blotting and hybridisation with alpha and zeta globin-specific probes were used to investigate the incidence of the the various …
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The social meanings and implications of the Beta-thalassaemia trait among South Asian women in England.
… Pakistan or Bangladesh) make sense of the beta-thalassaemia trait in the context of their everyday experiences and, in turn, how these experiences impact their identities. (2) To ascertain the extent of the assimilation and management of genetic information by women of South Asian origin. (3) To …
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Ο ΧΑΛΚΟΣ ΤΟΥ ΟΡΟΥ ΕΠΙ ΟΜΟΖΥΓΟΥ Β-ΘΑΛΑΣΣΑΙΜΙΑΣ ΚΑΙ ΔΡΕΠΑΝΟΚΥΤΤΑΡΙΚΗΣ ΝΟΣΟΥ ΣΕ ΣΥΣΧΕΤΙΣΜΟ ΠΡΟΣ ΤΟΝ ΣΙΔΗΡΟ ΤΟΥ ΟΡΟΥ ΚΑΙ ΤΗΝ ΗΠΑΤΙΚΗ ΛΕΙΤΟΥΡΓΙΑ
… DETERMINED AMONG 20 PATIENTS FROM HOMOZYGOUS B-THALASSAEMIA, NON TREATED WITH DESFERRIOXAMIN 15 PATIENTS FROM HOMOZYGOUS B-THALASSAEMIA, TREATED FOR A LONG TIME WITH DESFERRIOXAMIN, AND 20 PATIENTS FROM DREPANOCYTIC DISEASE. PATIENTS WERE COMPARED TO 15 HETEROZYGOTES OF B-THALASSAEMIA, 15 …
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Molecular epidemiology of haemoglobin in the population of Libya and the molecular biology of normal and abnormal globin gene expression
… of different types of abnormal haemoglobins and thalassaemia in the population of Tripoli, Western and Southern Regions of Libya. 985 newborn babies from Tripoli were tested. Abnormal Hb's were noted in 10 samples (= 1.0%). Some of these were Hb C, Hb S, Hb S-β+ thaI, Hb Setif The aim of this …
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An investigation of the protective effect of alpha+-thalassaemia against severe Plasmodium falciparum amongst children in Kumasi, Ghana
Background: The alpha+-thalassaemias are the most common monogenic disorders of humans, characterised by microcytic and hypochromic anaemia. heir high frequency reflects selective advantage against death from Plasmodium falciparum malaria. The most common type of alpha+-thalassaemia amongst people …
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An investigation of the relationship between malaria and red-cell polymorphisms in Madang, Papua New Guinea
… Haldane proposed that the high frequency of the thalassaemias might reflect a heterozygote survival advantage against malaria. This “malaria hypothesis” formed the basis for this programme of research. Between 1993 and 2006, | conducted a series of comprehensive and detailed studies of the …
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Study of Growth and Bone Mineral Density and Factors Affecting Them in Children and Adolescents With Thalassaemia Major and Sickle Cell Disease
Thalassaemia and sickle cell disease (SCD) are the most widely distributed blood genetic disorders that occur at a high frequency in some populations including the Mediterranean region, parts of the Middle East, South East Asia and the Indian subcontinent. It is estimated that thalassaemia major …
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An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome
Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000. The prevalence in South Africa (SA) is unknown; however in Cape Town there is one extended family with seven males who …
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Genetic basis of hereditary persistence of fetal haemoglobin
… was the first reported case of a large b0-thalassaemia deletion mutation in the Afghan population. Mutations in the g-globin gene promoters were identified as a frequent (21% of patients) cause of non-deletion HPFH in the UK. The majority of mutations being in white British individuals with …
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Hereditary haematological disorders in the Greek population of Cape Town
… most commonly found in Greek persons are the thalassaemias, glucose-6-dehydrogenase (G-6-PD) deficiency and, to a lesser extent, certain of the haemoglobinopathies. The clinical and socio-economic consequences of these disorders are significant. In the homozygous state, alpha-thalassaemia is …
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ΥΕΡΣΙΝΙΕΣ ΚΑΙ ΥΕΡΣΙΝΙΩΣΕΙΣ ΣΕ ΠΑΙΔΙΑ ΜΕ ΜΕΣΟΓΕΙΑΚΗ ΑΝΑΙΜΙΑ
… THE 214 NON DIARRHOEAL CHILDREN VISITED THE TWO THALASSAEMIA OUTPATIENT UNITS DURING A PERIOD OF 14 MONTHS (APRIL 1981 - MAY 1982) HAVE HAD YERSINIA IN THE FAECES, EXCEPT ONE CARRYING THE FISH PATHOGEN YERSINIA RUCKERII. NONE OF THE THALASSAEMIC CHILDREN HAVE HAD YERSINIA AGGLUTINATING ANTIBODIES …
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Correlates of protective immunity in individuals who are exposed to Hepatitis C but appear uninfected
… mothers, multiply-transfused subjects with thalassaemia, and high risk injecting drug users. Cellular immune responses were evaluated in 23 infants born to HCV-antibody positive women. Responses were not detected in infants born to HCV-PCR negative mothers. IFN-? production was detected in …
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The nature of family-centred care in Thailand: a case study
… Family-centred care/ Case study/ Children with Thalassaemia/ Family participation/ Thailand
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Novel approach towards pathogenesis and treatment of sickle cell disease
… in homozygous HbS/S patients. The presence of α thalassaemia was protective and represents an obvious potential prognostic marker for this rare SCD genotype. Overall, the present work contributes to elucidation of the pathogenesis of SCD, suggests approaches to the development of novel therapies …
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Biophysical properties of blood-stage Plasmodium falciparum malaria: from single-cell host-pathogen interactions to human protective polymorphisms
… to 70% protection against malaria, and from Beta-thalassaemia individuals, were studied. A general correlation between red blood cell membrane tension, invasion efficiency and dynamics was established, determining a protective tension threshold above which cells are less likely to be invaded. …
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Characterizing and targeting the genomic consequences of ATRX deficiency in glioma
… inactivation of histone chaperone ATRX (a-thalassaemia/mental retardation X-linked) represents a defining molecular feature in several cancers, including malignant glioma. As standard of care only leads to transient responses and poor outcomes, there is an unmet clinical need for developing …
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Prediction of Physicochemical Properties For Fe3+ Chelating Agents
… repeatedly transfused patients suffering from (3-thalassaemia or sickle cell anaemia, iron chelation therapy is required. Desferioxamine (DFO), the most widely used therapeutic chelator, is a hexadentate ligand possessing a very high affinity for Fe3+, but it is not orally active. …
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