Výsledky vyhledávání - "beta-Thalassemia diagnosis"

Optimal strategies for carrier screening and prenatal diagnosis of α- and β-thalassemia

Publikováno v: Hematology Am Soc Hematol Educ Program

The thalassemias are inherited quantitative disorders of hemoglobin synthesis with a significant worldwide burden, which result in a wide spectrum of disease from the most severe transfusion-dependent form to the mildest asymptomatic carrier state. I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac3e949a08fa11239e250d1d3f43b75
https://doi.org/10.1182/hematology.2021000296

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Advances in the management of α-thalassemia major: reasons to be optimistic

Autor: Paulina Horvei, Tippi MacKenzie, Sandhya Kharbanda

Publikováno v: Hematology Am Soc Hematol Educ Program

α-Thalassemia major (ATM) is a severe disease resulting from deletions in all 4 copies of the α-globin gene. Although it is usually fatal before birth, the advent of in utero transfusions has enabled survival of a growing number of children. Postna

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0694493344d7dc68346adff181ae2c2e
https://pubmed.ncbi.nlm.nih.gov/34889445

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Prenatal diagnosis of beta-thalassaemia by coelocentesis

Autor: D Lolis, V Kranas, Ioannis Georgiou, K Zikopoulos, G Makrydimas

Publikováno v: Molecular Human Reproduction. 3:729-731

Coelomic fluid and placental tissue were obtained from four women undergoing termination of pregnancy at 7-9 weeks gestation for psychological reasons. All four women and their partners were known carriers of beta-thalassaemia and DNA analysis in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5807ec1b1bedd099a264cf5fe839b48
https://doi.org/10.1093/molehr/3.8.729

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Early prenatal diagnosis by celocentesis

Autor: Makrydimas, G., Georgiou, I., Bouba, I., Lolis, D., Nicolaides, K. H.

BACKGROUND: Celocentesis is the ultrasound-guided aspiration of fluid from the extra-amniotic cavity at 7-8 weeks of gestation. This paper reports on the clinical application of celocentesis for early prenatal diagnosis. METHODS: Celocentesis was suc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::159d7ae1e6da7ee9da36e23927af8a49
http://olympias.lib.uoi.gr/jspui/handle/123456789/22284

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Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos

Autor: Van de Velde, H., Georgiou, I., De Rycke, M., Schots, R., Sermon, K., Lissens, W., Devroey, P., Van Steirteghem, A., Liebaers, I.

BACKGROUND: Beta-Thalassaemia results from co-inheritance of two mutant beta-globin alleles. Allogeneic cord blood cell transplantation (CBT) from an HLA-identical sibling donor is an excellent treatment option for beta-thalassaemia. In families with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10561::b726636e0bcef62e7874b50e5251c6fe
http://olympias.lib.uoi.gr/jspui/handle/123456789/19692

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The thalassemia syndromes and pregnancy, molecular basis, clinical aspects, prenatal diagnosis

Autor: Najdecki, R., Ioannis Georgiou, Lolis, D.

Publikováno v: Scopus-Elsevier

Thalassemies are the most common inherited disorders, occur at high frequency in endemic regions as the Mediterranean countries, Middle East, North Africa, Asia, and are associated with hypochromic, hemolytic anemia. For several years, immigrations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0f4c01feb31ff9550d59e2a739e52fe0
http://olympias.lib.uoi.gr/jspui/handle/123456789/22331

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