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Dissertations / Theses on the topic 'Thalassemiа'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

Brugiroux, Alain. "Traitements de la bêta-thalassemie majeure." Saint-Etienne, 1988. http://www.theses.fr/1988STET6049.

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L'auteur compare les différentes modalités du traitement de la Bêta-thalassémie majeure, en illustrant de quatre observations personnelles. Entre les mains de Lucarelli, les greffes HLA identiques avant 7 ans donnent de bons résultats avec 10% de décès, 90% de survie dont 82% de greffe durable. Après 8 ans, les résultats sont moins bons avec 25% de décès, 75% de survie dont 70% de greffe durable. L'indication de greffe en HLA identique mérite d'être systématiquement discutée et d'être souvent pratiquée devant tout Bêta-thalassémique disposant d'un donneur.

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2

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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3

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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4

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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5

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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6

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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7

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

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8

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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9

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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10

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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11

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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12

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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13

LE, GALLAIS GAERTNER MARIE-PIERRE. "Epidemiologie des beta-thalassemies en corse." Nice, 1994. http://www.theses.fr/1994NICE6548.

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14

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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15

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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16

COULON, YANN. "Neocytes et transfusion de malades atteints de thalassemie majeure." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20507.

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17

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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18

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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19

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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20

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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21

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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22

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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23

GAY, PHILIPPE. "Etude de l'erythropoietine au cours des thalassemies heterozygotes." Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20193.

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24

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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25

Cicorelli, Guy. "Les thalassémies." Montpellier 1, 1988. http://www.theses.fr/1988MON11047.

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26

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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27

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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28

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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29

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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30

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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31

Simoni, Eric. "Etude epidemiologique des thalassemies en corse : specificite des problemes de sante publique dans l'ile et perspectives d'avenir." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20490.

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32

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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33

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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34

Souweine, Bertrand. "Beta thalassemie heterozygote et grossesse : a propos d'une enquete effectuee en haute-corse." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20529.

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35

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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36

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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37

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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38

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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39

ROUYER-FESSARD, PHILIPPE. "Contribution a l'etude cellulaire et moleculaire des beta thalassemies." Paris, EPHE, 1989. http://www.theses.fr/1989EPHE3007.

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La beta thalassemie est due a un deficit de synthese de la chaine beta de l'hemoglobine entrainant un exces de chaines alpha non appariees qui precipitent dans la membrane. La quantite de chaines alpha fixees a la membrane erythrocytaire est correlee avec la baisse de la spectrine (26%) variable selon les patients et chez un meme patient selon les cellules. Ce deficit en spectrine est associe a un deficit en ankyrine (34%), principale proteine d'ancrage du cytosquelette a la membrane. Cette observation nouvelle n'a pu etre faite qu'avec l'introduction d'une methode originale de separation elec

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40

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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41

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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42

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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43

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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44

FREGIER, MAGALI. "Etude de la surcharge en fer dans la thalasso-drepanocytose." Aix-Marseille 2, 1988. http://www.theses.fr/1988AIX20360.

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45

Nucera, Olsola Jacqueline. "Traitement des beta-thalassemies majeures : traitement conventionnel et greffe de moelle osseuse." Université Louis Pasteur (Strasbourg) (1971-2008), 1991. http://www.theses.fr/1991STR1M112.

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46

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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47

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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48

Helley, Dominique. "Activite procoagulante des erythrocytes de sujets atteints de drepanocytose ou de beta-thalassemie." Lille 2, 1994. http://www.theses.fr/1994LIL2M035.

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49

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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50

BALSAMO, ANTONINA. "Study of deferiprone-induced agranulocytosis in β-thalassemic patients through a metabolomics approach". Doctoral thesis, Università degli Studi di Cagliari, 2021. http://hdl.handle.net/11584/316317.

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ABSTRACT β-Thalassemia is one of the most prevalent forms of congenital blood disorders, characterised by a reduced or absent ability to produce haemoglobin. The mainstay of treatment consists of blood transfusion to maintain the patient’s haemoglobin above 9-10 g/dL. Repeated transfusions result in an excessive accumulation of iron in the body, removal of which is achieved through iron chelating agents. Deferiprone is the first orally bioavailable iron chelator, approved for clinical use in 1997. Considering its potential toxicity, the use of Deferiprone is allowed in Europe only for the

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