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Relevant bibliographies by topics / Alpha thalassemia

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Academic literature on the topic 'Alpha thalassemia'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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Journal articles on the topic "Alpha thalassemia"

1

Olivieri, O., L. De Franceschi, MD Capellini, D. Girelli, R. Corrocher, and C. Brugnara. "Oxidative damage and erythrocyte membrane transport abnormalities in thalassemias." Blood 84, no. 1 (1994): 315–20. http://dx.doi.org/10.1182/blood.v84.1.315.bloodjournal841315.

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Oxidative damage induced by free globin chains has been implicated in the pathogenesis of the membrane abnormalities observed in alpha and beta thalassemia. We have evaluated transport of Na+ and K+ in erythrocytes of patients with thalassemias as well as in two experimental models that use normal human red blood cells, one for alpha thalassemia (methylhydrazine treatment, alpha thalassemia like) and one for beta thalassemia (phenylhydrazine treatment, beta thalassemia like). With the exception of the Na-K pump, similar alterations in membrane transport were observed in thalassemia and thalass

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2

Olivieri, O., L. De Franceschi, MD Capellini, D. Girelli, R. Corrocher, and C. Brugnara. "Oxidative damage and erythrocyte membrane transport abnormalities in thalassemias." Blood 84, no. 1 (1994): 315–20. http://dx.doi.org/10.1182/blood.v84.1.315.315.

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Abstract Oxidative damage induced by free globin chains has been implicated in the pathogenesis of the membrane abnormalities observed in alpha and beta thalassemia. We have evaluated transport of Na+ and K+ in erythrocytes of patients with thalassemias as well as in two experimental models that use normal human red blood cells, one for alpha thalassemia (methylhydrazine treatment, alpha thalassemia like) and one for beta thalassemia (phenylhydrazine treatment, beta thalassemia like). With the exception of the Na-K pump, similar alterations in membrane transport were observed in thalassemia an

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3

Advani, R., S. Sorenson, E. Shinar, W. Lande, E. Rachmilewitz, and SL Schrier. "Characterization and comparison of the red blood cell membrane damage in severe human alpha- and beta-thalassemia." Blood 79, no. 4 (1992): 1058–63. http://dx.doi.org/10.1182/blood.v79.4.1058.1058.

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Abstract The aim of the present work was to understand the pathophysiology of the severe human thalassemias as represented by beta-thalassemia intermedia and hemoglobin (Hb) H (alpha-thalassemia) disease. We have previously shown that the material properties of the red blood cell (RBC) and its membrane differ in severe alpha- and beta-thalassemia, and we now show that this difference is probably caused by accumulation of alpha-globin chains at the cytoskeleton in beta-thalassemia, whereas beta-globin chains are associated with the cytoskeleton in alpha- thalassemia. In both alpha- and beta-tha

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Advani, R., S. Sorenson, E. Shinar, W. Lande, E. Rachmilewitz, and SL Schrier. "Characterization and comparison of the red blood cell membrane damage in severe human alpha- and beta-thalassemia." Blood 79, no. 4 (1992): 1058–63. http://dx.doi.org/10.1182/blood.v79.4.1058.bloodjournal7941058.

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The aim of the present work was to understand the pathophysiology of the severe human thalassemias as represented by beta-thalassemia intermedia and hemoglobin (Hb) H (alpha-thalassemia) disease. We have previously shown that the material properties of the red blood cell (RBC) and its membrane differ in severe alpha- and beta-thalassemia, and we now show that this difference is probably caused by accumulation of alpha-globin chains at the cytoskeleton in beta-thalassemia, whereas beta-globin chains are associated with the cytoskeleton in alpha- thalassemia. In both alpha- and beta-thalassemia,

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5

Schrier, SL, E. Rachmilewitz, and N. Mohandas. "Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations." Blood 74, no. 6 (1989): 2194–202. http://dx.doi.org/10.1182/blood.v74.6.2194.2194.

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Abstract To define how excess unpaired alpha- and beta-globin chains in severe beta-thalassemia and severe alpha-thalassemia interacting with the membrane might alter cellular and membrane properties, we performed a series of biophysical and biochemical analyses on erythrocytes obtained from affected patients. Detailed analysis of cellular and membrane deformability characteristics showed that both forms of thalassemic erythrocytes have excess surface area in relation to cell volume and increased membrane dynamic rigidity. The deformability characteristics of thalassemic erythrocytes in hypert

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Schrier, SL, E. Rachmilewitz, and N. Mohandas. "Cellular and membrane properties of alpha and beta thalassemic erythrocytes are different: implication for differences in clinical manifestations." Blood 74, no. 6 (1989): 2194–202. http://dx.doi.org/10.1182/blood.v74.6.2194.bloodjournal7462194.

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To define how excess unpaired alpha- and beta-globin chains in severe beta-thalassemia and severe alpha-thalassemia interacting with the membrane might alter cellular and membrane properties, we performed a series of biophysical and biochemical analyses on erythrocytes obtained from affected patients. Detailed analysis of cellular and membrane deformability characteristics showed that both forms of thalassemic erythrocytes have excess surface area in relation to cell volume and increased membrane dynamic rigidity. The deformability characteristics of thalassemic erythrocytes in hypertonic medi

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7

Sookaromdee, Pathum, and Viroj Wiwanitkit. "Association between Alpha-Thalassemia Carrier Prevalence and Incidence of COVID-19." Journal of Preventive, Diagnostic and Treatment Strategies in Medicine 1, no. 4 (2022): 252–54. http://dx.doi.org/10.4103/jpdtsm.jpdtsm_74_22.

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BACKGROUND: The association between COVID-19 incidence and genetic underlying is an interesting issue. The possible association between thalassemia and COVID-19 is proposed. In additional to beta-thalassemia, alpha-thalassemia is another important group of thalassemic disorder. MATERIALS AND METHODS: In this report, the authors present an observation on correlation between alpha-thalassemia 1carrier prevalence and incidence of COVID-19 from a tropical country in Southeast Asia that alpha-thalassemia is endemic. RESULTS: According to this study, there is no significant correlation and the calcu

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Jha, R. "Distribution of hemoglobinopathies in patients presenting for electrophoresis and comparison of result with High performance liquid chromatography." Journal of Pathology of Nepal 5, no. 10 (2015): 850–58. http://dx.doi.org/10.3126/jpn.v5i10.15642.

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Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies. Cellulose acetate electrophoresis at alkaline pH and diagnosis based mainly on visual impression of thickness of band may miss the thalassemic trait patients. The aim of this study was to find out different hemoglobinopathies and thalassemia presenting in our hospital and to compare electrophoresis results with HPLC.Materials and Methods: Thi

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Romao, L., L. Osorio-Almeida, DR Higgs, J. Lavinha, and SA Liebhaber. "Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes." Blood 78, no. 6 (1991): 1589–95. http://dx.doi.org/10.1182/blood.v78.6.1589.1589.

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Abstract We describe an alpha-thalassemia determinant in which alpha-globin expression is silenced by a deletion located 27 kb 5′ to the transcription start site of the alpha 2-globin gene. This alpha- thalassemic determinant, (alpha alpha)MM, is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controlling sequences critical to globin gene expression.

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Romao, L., L. Osorio-Almeida, DR Higgs, J. Lavinha, and SA Liebhaber. "Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes." Blood 78, no. 6 (1991): 1589–95. http://dx.doi.org/10.1182/blood.v78.6.1589.bloodjournal7861589.

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We describe an alpha-thalassemia determinant in which alpha-globin expression is silenced by a deletion located 27 kb 5′ to the transcription start site of the alpha 2-globin gene. This alpha- thalassemic determinant, (alpha alpha)MM, is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controlling sequences critical to globin gene expression.

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Dissertations / Theses on the topic "Alpha thalassemia"

1

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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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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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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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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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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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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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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8

林勇行 and Yung-hang Lam. "Sonographic features of fetuses with homozygous [alpha]-thalassaemia-1during early pregnancy." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31981744.

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9

Akerman, Beverly. "Molecular studies of the alpha globin genes in Quebec populations." Thesis, McGill University, 1987. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=66253.

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10

Griffon, Céline. "Modulation et rôle des paramètres hémorhéologiques dans la physiopathologie de la drépanocytose." Thesis, Lyon, 2018. http://www.theses.fr/2018LYSE1278/document.

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Le premier objectif de cette thèse était d’améliorer l’utilisation et la compréhension des outils de mesure de la déformabilité du globule rouge (GR) dans la drépanocytose (Etudes 1 et 2). L’étude 1 a montré l’importance de la standardisation des mesures de déformabilité par ektacytométrie chez les enfants drépanocytaires. Au cours de l’étude 2, les propriétés des GR ont été modifiées et la variation des courbes de déformabilité érythrocytaire « classique » (index d’élongation en fonction de la contrainte de cisaillement en milieu isotonique) a été comparée aux résultats d’osmoscan (mesure de

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Books on the topic "Alpha thalassemia"

1

Harteveld, Cornelis Leonard Harteveld. The molecular genetics of [alpha]-thalassemia: Structure and expression of the [alpha]-globin gene cluster. University of Leiden, 1998.

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Kuo, Kevin H. M. Fast Facts for Patients: Alpha Thalassemia. Karger AG, S., 2023.

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3

Kajian DNA Thalassemia Alpha di Medan. USU Press, 2004.

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Kuo, Kevin H. M. Fast Facts for Patients: Alpha Thalassemia. Karger AG, S., 2023.

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Tobola, Cortez. Coloring Book - You Will Get Better - Alpha Thalassemia. Independently Published, 2021.

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Book chapters on the topic "Alpha thalassemia"

1

Pritchard, Colin C., and Jonathan F. Tait. "Alpha Thalassemia." In Diagnostic Molecular Pathology in Practice. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-19677-5_3.

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Qidwai, Tabish. "Alpha-Thalassemia." In Exploration of Host Genetic Factors associated with Malaria. Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-33-4761-8_3.

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Johnston, Lannette. "Alpha-Thalassemia X-Linked Mental Retardation Syndrome." In Clinical Case Studies in Home Health Care. John Wiley & Sons, Inc., 2013. http://dx.doi.org/10.1002/9781118785744.ch32.

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Chen, Harold. "Alpha-Thalassemia X-Linked Mental Retardation Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_9-2.

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Chen, Harold. "Alpha-Thalassemia X-Linked Mental Retardation Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_9-3.

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Chen, Harold. "Alpha-Thalassemia X-Linked Mental Retardation Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_9.

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7

Shehab, Sara A., Ashraf Darwish, and Aboul Ella Hassanien. "Alpha Thalassemia Classification Based on Rough Set Theory." In Smart Innovation, Systems and Technologies. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-97-3980-6_50.

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8

"Alpha‐Thalassemia." In Encyclopedia of Medical Genomics and Proteomics. CRC Press, 2004. http://dx.doi.org/10.1081/e-emgp-120020557.

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Galanello, Renzo, and Antonio Cao. "Alpha‐Thalassemia." In Encyclopedia of Medical Genomics and Proteomics. Informa Healthcare, 2004. http://dx.doi.org/10.3109/9780203997352.010.

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Arica, Vefik, and Secil Gunher. "Alpha Thalassemia Disorders." In Contemporary Pediatrics. InTech, 2012. http://dx.doi.org/10.5772/32193.

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Conference papers on the topic "Alpha thalassemia"

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Bharath, M., S. Gowtham, Ashwini Kodipalli, and Trupthi Rao. "Enhancing Alpha Thalassemia Screening: A Comparative Study of Multiple Machine Learning Classifiers and Interpretation using Explainable AI." In 2024 4th International Conference on Intelligent Technologies (CONIT). IEEE, 2024. http://dx.doi.org/10.1109/conit61985.2024.10626908.

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Kamal, Madeeha, Ramin Badii, Aliaa Amer, Shaza Abu Sirriya, and Marina Kleanthous. "The Molecular Basis of Alpha-Thalassemia in the Qatari Pediatric Population." In Qatar Foundation Annual Research Conference Proceedings. Hamad bin Khalifa University Press (HBKU Press), 2016. http://dx.doi.org/10.5339/qfarc.2016.hbpp1411.

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Kamal, Madeeha, Shaza Abu Sirriya, Aliaa Amer, Marina Kleanthouse, Mashael Aljaber, and Ramin Badii. "Most Common Genetic Mutations of Alpha Thalassemia Among Qatari Pediatric Population." In Selection of Abstracts From NCE 2016. American Academy of Pediatrics, 2018. http://dx.doi.org/10.1542/peds.141.1_meetingabstract.471.

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Tressa, Neethu, Asha V, Suma C. M, Suman Kumar Singh, and Subhash J. "Alpha Thalassemia Classifier Using Machine Learning Techniques Based on Genetic Mutations." In 2023 Third International Conference on Ubiquitous Computing and Intelligent Information Systems (ICUIS). IEEE, 2023. http://dx.doi.org/10.1109/icuis60567.2023.00028.

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Meti, Aditya H., B. Uma Maheswari, and Aditya Vijjapu. "Advancing Alpha-Thalassemia Carrier Screening for Better Predictions Using Explainable AI." In 2023 4th International Conference on Communication, Computing and Industry 6.0 (C216). IEEE, 2023. http://dx.doi.org/10.1109/c2i659362.2023.10430520.

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