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Rozprawy doktorskie na temat „Thalassemia”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Kwong, Yen-hwa Colinette. "Quality of life and psychosocial high risk factors in adolescents with Cooleys Anaemia /." View the Table of Contents & Abstract, 2007. http://sunzi.lib.hku.hk/hkuto/record/B40163842.

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2

Chan, Yuk-yin. "Haematological and molecular studies of Thalassaemias in Hong Kong Chinese /." Hong Kong : University of Hong Kong, 1998. http://sunzi.lib.hku.hk/hkuto/record.jsp?B19657882.

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3

Popovich, Bradley W. (Bradley Wayne). "Molecular characterization of an atypical B-thalassemia." Thesis, McGill University, 1986. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=72818.

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4

Leung, Kwok-yin, та 梁國賢. "Prenatal ultrasound prediction of homozygous α⁰-thalassemia". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B47454039.

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Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/o

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5

Li, Ming-cheng Anita. "?thalassaemia in Hong Kong children." Click to view the E-thesis via HKUTO, 1998. http://sunzi.lib.hku.hk/hkuto/record/B43893879.

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6

Chan, Pui-wah Vicky. "Molecular genetics of Hb H disease in Hong Kong Chinese." Click to view the E-thesis via HKUTO, 2003. http://sunzi.lib.hku.hk/hkuto/record/B31970904.

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7

Ma, Victor. "Laboratory diagnosis of ( --SEA) alpha-thalassaemia deletion." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk/hkuto/record.jsp?B2337312x.

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8

Yang, Dongya. "DNA diagnosis of thalassemia from ancient Italian skeletons." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0005/NQ42773.pdf.

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9

Yang, Dongya. "DNA diagnosis of thalassemia from ancient Italian skeletons /." *McMaster only, 1997.

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10

Efremov, Dimitar Georgi. "Correlation of genotype and phenotype in [beta]-thalassemia." [Maastricht : Maastricht : Rijksuniversiteit Limburg] ; University Library, Maastricht University [Host], 1994. http://arno.unimaas.nl/show.cgi?fid=6614.

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11

DANJOU, FABRICE. "Statitical genetics applied to ß-thalassemia phenotype severity." Doctoral thesis, Università degli Studi di Cagliari, 2011. http://hdl.handle.net/11584/266268.

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12

Sousa, Ribeiro Maria Leticia de. "ß-Thalassemia and HB lepore heterozygotes: phenotype-genotype correlation." [Maastricht : Maastricht : Universiteit Maastricht] ; University Library, Maastricht University [Host], 1997. http://arno.unimaas.nl/show.cgi?fid=5822.

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13

Gabriel, André Filipe Gonçalves. "Suppression therapy of ß-thalassemia using Kanamycin and Gentamicin." Master's thesis, Universidade de Aveiro, 2016. http://hdl.handle.net/10773/17790.

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Mestrado em Biologia Molecular e Celular<br>As mutações nonsense são mutações pontuais que originam codões de terminação prematura (PTCs). A expressão de genes portadores de PTCs pode levar à síntese de proteínas truncadas. As proteínas truncadas caracterizam-se por serem menores e, na maioria das vezes, não possuem função biológica, apesar de poderem ter funções deletérias para a célula. Em condições normais, transcritos portadores de PTCs são degradados rapidamente através do processo de nonsense mediated mRNA decay (NMD). Quando um PTC atinge o sítio A ribossomal, os fatores de terminação

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14

Yung, Ka-hung. "Genetic determinants of osteoporosis in Cooley's anemia." Click to view the E-thesis via HKUTO, 2004. http://sunzi.lib.hku.hk/hkuto/record/B31972263.

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15

Tang, Yeuk-nam Kennie. "A comparison of DIG nonradioactive with 32p radioactive nucleic acid labeling of Southern blot for the detection of alpha thalassaemia /." View the Table of Contents & Abstract, 2005. http://sunzi.lib.hku.hk/hkuto/record/B32037661.

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16

馬慰平 and Victor Ma. "Laboratory diagnosis of (--SEA) alpha-thalassaemia deletion." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31970060.

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17

方乃聰 and Nai-chung Fong. "Real time three dimensional echocardiographic assessment on patients with beta-thalassaemia major." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31970242.

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18

Ho, Sophia KW, and 何廣慧. "Detection of clinically silent alpha-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/206558.

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α-thalassemia is an inherited globin gene disorder commonly found among the Chinese population. It is composed of both non-deletional and deletional α-globin gene mutations. Classical α-thalassemia presents with red cell microcytosis but silent cases with a normal mean corpuscular volume (MCV) are also seen. Routine laboratory testing methods for large-scale detection of silent α-thalassemia mutations are onerous and time-consuming. Furthermore, methods such as denaturing high performance liquid chromatography (HPLC) or denaturing gradient gel electrophoresis (DGGE) for scanning of point muta

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19

Anderson, Lisa Judith. "Thalassaemia and iron-induced cardiac failure : development of a method to quantify myocardial iron and its application for clinical management." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.271498.

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20

Fong, Nai-chung. "Real time three dimensional echocardiographic assessment on patients with beta-thalassaemia major." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk/hkuto/record.jsp?B23340095.

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21

Li, Ming-cheng Anita, and 李明眞. "{221} thalassaemia in Hong Kong children." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1998. http://hub.hku.hk/bib/B43893879.

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22

He, Taigang. "Magnetic resonance imaging relaxometry for myocardial tissue characterisation in thalassemia." Thesis, Imperial College London, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.521112.

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23

Choi, Chi-lung, and 蔡志龍. "Modification of the thalassemia phenotype: ananalysis of some genetic factors." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B35541714.

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24

Choi, Chi-lung. "Modification of the thalassemia phenotype an analysis of some genetic factors /." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B35541714.

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25

Shum, Suet-kam. "Living with thalassaemia major the process of adjustment /." Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B26293195.

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26

Udyaningsih-Freisleben, Seruni Kusuma. "XAS and RR Structural Analysis of Hemoglobin and EPR Spectroscopic Labelling of Red Blood Cell Membranes Isolated from Thalassemia Patients in Jakarta, Indonesia." Thesis, The University of Sydney, 2003. https://hdl.handle.net/2123/27995.

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A study on thalassemia intermedia and major patients in Jakarta was initiated to obtain a comprehensive picture of metabolic dysregulation, iron overload, oxidative stress, and cell damage. Data were collected from a group of 10 transfusion-dependent patients in an age range of 11-25 years and another group of 5 frequently transfused (for at least 15 years) patients aged 17-30 years. A third group comprises 5 patients (aged 7 to 14 years) who had not yet obtained transfusions. The 10 controls were voluntary students without diagnosis or clinical signs of thalassemia up to 30 years of age. The

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27

SALVATORI, Francesca. "Strategies for the adult haemoglobin (HbA) production in β0-thalassemia patients". Doctoral thesis, Università degli studi di Ferrara, 2009. http://hdl.handle.net/11392/2389151.

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Background: Nonsense mutations, giving rise to UAA, UGA, UAG stop codons within the coding region of mRNAs, promote premature translational termination and are the leading cause of about 30% of inherited diseases, including cystic fibrosis, Duchenne muscular dystrophy, thalassemia. Currently, there are two approaches to directly overcome diseases caused by nonsense mutations: gene therapy, meaning introduction of an exogenous gene, and translational read-through induced by aminoglycosides, which decrease the accuracy of translation elongation and reduce the efficacy of the translation

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28

Ma, Shiu-kwan Edmond, and 馬紹鈞. "Genotype phenotype correlation of {221}-thalassaemia in the Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B29532656.

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29

Tsang, Tsui-ying Stella. "Application of quantitative polymerase chain reaction in the diagnosis of thalassaemia /." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B36433895.

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30

Chan, Yuk-yin, and 陳玉燕. "Haematological and molecular studies of Thalassaemias in Hong Kong Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1998. http://hub.hku.hk/bib/B31215014.

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31

Tang, Yeuk-nam Kennie, and 鄧若楠. "A comparison of DIG nonradioactive with 32p radioactive nucleic acid labeling of Southern blot for the detection of alpha thalassaemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B45010456.

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32

Lam, Yung-hang. "Sonographic features of fetuses with homozygous [alpha]-thalassaemia-1 during early pregnancy." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk:8888/cgi-bin/hkuto%5Ftoc%5Fpdf?B23373295.

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33

Yeung, Tin-wai, and 楊天慧. "Use of three-dimensional ultrasound in the prediction of homozygous alpha0-thalassemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290616.

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34

Yeung, Tin-wai. "Use of three-dimensional ultrasound in the prediction of homozygous alpha0-thalassemia." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290616.

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35

Sonzogni, L. "IN VITRO FERROPORTIN EXPRESSION IN NON-TRANSFUSION DEPENDENT THALASSEMIA DURING ERYTHROID DIFFERENTIATION." Doctoral thesis, Università degli Studi di Milano, 2015. http://hdl.handle.net/2434/258239.

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INTRODUZIONE Le β-talassemie sono una delle malattie genetiche più frequenti in tutto il mondo con 270 milioni di portatori e 350.000 nuovi nati affetti all’anno. Questa malattia è geneticamente caratterizzata dalla perdita di produzione della catena β globinica dell'emoglobina adulta, dovuta a diverse mutazioni nel gene della β-globina. Poiché il gene beta è espresso su entrambi i cromosomi 11, possiamo avere due differenti tipi (e con differente gravità) di beta talassemia a seconda dell’assenza di entrambi o di un solo gene della beta globina: nel primo caso si ha la β talassemia MAJOR

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36

Szuber, Natasha. "Iron chelators improve the pathophysiology of [beta]-thalassemia in vitro and in vivo." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=82433.

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Thalassemia is a blood disorder requiring lifelong transfusions for survival. Erythrocytes accumulate toxic iron at their membranes, triggering an oxidative cascade that leads to their premature destruction. We hypothesized that removing this proximate iron compartment as a primary treatment using novel iron chelators, could prevent hastened red cell removal and clinically alleviate the need for transfusion. Novel, highly cell permeable iron chelators, pyridoxal isonicotinoyl hydrazone (PIH) and pyridoxal ortho-chlorobenzoyl hydrazone (o-108) were compared to the present mainstay, desfe

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37

SIGHINOLFI, SILVIA. "INTRACELLULAR IRON OVERLOAD AFFECTS HSC METABOLISM BY IMPAIRING MITOCHONDRIAL FITNESS IN β-THALASSEMIA". Doctoral thesis, Università Vita-Salute San Raffaele, 2023. https://hdl.handle.net/20.500.11768/137019.

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Mitochondrial activity and metabolism significantly control hematopoietic stem cell (HSC) function and fate. HSCs change the metabolic state in response to stress signals, such as reactive oxygen species (ROS), which drive HSC entry into cell cycle accompanied by increased mitochondrial oxidative phosphorylation (OXPHOS) and glycolysis. However, excessive accumulation of ROS results in oxidative damage of cellular organelles, including mitochondria. Iron is one of the sources of ROS and HSCs can uptake iron but little is known about the effects of iron on HSC metabolism. Recently, we demonstr

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38

COSENZA, Lucia Carmela. "Cellular and biomolecular technologies for stratification of β thalassemia patients: applications in theranostics". Doctoral thesis, Università degli studi di Ferrara, 2015. http://hdl.handle.net/11392/2389112.

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The research described in the present PhD Thesis has been conducted in the context of a multicenter FP7 European Project called THALAMOSS (THalassemia MOdular Stratification System), having as major objective the identification of molecular markers for the development of personalized therapies for hemoglobinopathies, in particular ß-thalassemia. The ß-thalassemias are an autosomal recessive genetic disorders caused by the absence or reduction of ß-globin chains of adult hemoglobin, for which targeted and definitive treatments are, at present, not available. In order to sustain project bas

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39

MONTAGNER, Giulia. "Innovative strategies for a personalized therapy of β-thalassemia and sickle cell anemia". Doctoral thesis, Università degli studi di Ferrara, 2015. http://hdl.handle.net/11392/2403250.

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Le emoglobinopatie sono difetti genetici ereditari che originano dal malfunzionamento della proteina adibita al trasporto dell’ossigeno, cioè l’emoglobina (Hb). Tra le emoglobinopatie, l’anemia falciforme (SCD) e la β-talassemia, malattie genetiche che coinvolgono il gene βglobinico, hanno il maggior impatto sulla mortalità e sullo stato patologico e affliggono milioni di persone nel mondo (Weatherall, 2010). Nella β-talassemia, il difetto a carico del gene β-globinico causa uno squilibrio tra le catene α- e β-globiniche nei globuli rossi (RBCs). Questa condizione porta al danno delle membran

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40

Lau, Ka-po, and 劉嘉寶. "Multiplex ARMS PCR for SNP genotyping and its association with HbF expression and other clinical phenotypes in beta-thalassaemia patientsin Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44659726.

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Yung, Ka-hung, and 翁家紅. "Genetic determinants of osteoporosis in Cooley's anemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B31972263.

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42

阮陳健貞 and Kian-cheng Tan-Un. "Chinese B thalassaemia: DNA polymorphisms andspecific mutations." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1986. http://hub.hku.hk/bib/B31230970.

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43

Tsang, Tsui-ying Stella, and 曾璀瑩. "Application of quantitative polymerase chain reaction in the diagnosisof thalassaemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B45010948.

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44

Tsang, Ho-yin, and 曾皓言. "Detection of clinically silent beta-globin gene mutations in Chinese using high resolution melting analysis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48334182.

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Mutations in the beta-globin (β-globin) gene cause beta-thalassaemia (β-thalassaemia).The screening strategy for β-thalassaemiais based on the value of mean corpuscular volume (MCV) from the complete blood count (CBC) data. Current laboratory practice considers blood samples with MCV higher than 80fL as normal. No further assessment will be done on these samples. However, there are clinically silent β-globin gene mutations with MCV higher than 80fL, for example, heterozygous haemoglobin E (HbE). The importance of finding out this kind of mutations is due to the serious outcome when they occur

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45

Liu, Ka-wun Ada, and 劉嘉媛. "Detection of uncommon globin gene mutations causing unexplained microcytosis in Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48421285.

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The thalassaemias are the commonest monogenic disorders in the world population. They occur at a particularly high frequency in Mediterranean regions and Southeast Asia, which cause a massive public health problem. In Hong Kong, the prevalence of heterozygous carriers of α or β thalassaemia mutations is approximately 8% [1]. Thalassaemia is characterized by the reduced synthesis of one or more normal globin chains. This causes globin chain imbalance and finally leads to hypochromic microcytic anaemia. Different types of thalassaemia are named according to the under-produced chains. The maj

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46

Dee, Cathleen Michelle Ang, and 李明芳. "Sublethal iron overload can alter the morphology and function of dendritic cells which may predispose to gram-negative infection in beta-thalassemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/208548.

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47

Tan-Un, Kian-cheng. "Chinese B thalassaemia : DNA polymorphisms and specific mutations /." [Hong Kong : University of Hong Kong], 1986. http://sunzi.lib.hku.hk/hkuto/record.jsp?B12436884.

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Hodgson, Todd R. "Alpha-thalassemia mental retardation (ATR-X) syndrome: Elucidating cellular functions of the ATRX gene." Thesis, University of Ottawa (Canada), 2004. http://hdl.handle.net/10393/26657.

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Mutations in the ATRX gene are responsible for the alpha-thalassemia mental retardation (ATR-X) syndrome. ATRX is a putative global transcription regulator and chromatin remodelling protein. The goal of this research is to characterize interactions ATRX has with other proteins involved in transcription regulation, and identify domains in ATRX that may be responsible for these interactions. Several stable NIH 3T3 tet-off cell lines have been established that contain a human ATRX transgene. In addition, ATRX, PML, and Daxx appear to co-localize in nuclear bundles, suggesting they may act togethe

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Dimovski, Aleksandar Jovo. "Factors affecting the fetal hemoglobin levels in patients with sickle cell anemia and thalassemia." [Maastricht : Maastricht : Rijksuniversiteit Limburg] ; University Library, Maastricht University [Host], 1993. http://arno.unimaas.nl/show.cgi?fid=6583.

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TALWAR, SIDDHANT. "EFFECTS OF CONSULTATION AND SUPPLEMENTAL EDUCATION FOR THALASSEMIA PATIENTS ON EFFECTIVE TREATMENT AND CARE." Thesis, The University of Arizona, 2016. http://hdl.handle.net/10150/613632.

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Thalassemia is a genetic disorder that is characterized by abnormal hemoglobin within red blood cells of the body. If not diagnosed early and treated with proper care, this disorder is fatal. Once considered rare, this disorder’s rise in prevalence is now of concern to many health professionals because it does not receive the same level of attention as other, more common blood disorders. Due to its chronic treatment course and recent advancements in treatment, thalassemia still remains primarily a pediatric disorder not having many cases of patients living into adulthood at this point in

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