Zobrazeno 1 - 10
of 190
pro vyhledávání: '"α thalassaemia"'
Autor:
Rosnah Bahar, Vasuhi Kalimuthu, Muhammad Farid Johan, Siti Zubaidah Mustapha, Zefarina Zulkafli
Publikováno v:
Liaquat National Journal of Primary Care, Vol 6, Iss 3, Pp 232-239 (2024)
Background: To date, more than 70 variants of non-deletional mutations associated with α-thalassaemia have been recognized and recorded, showcasing the diverse genetic manifestations of the condition. Objective: This study is to provide data on th
Externí odkaz:
https://doaj.org/article/27c141626c3a46919d0d28d5fed63840
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
ABSTRACTObjectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening
Externí odkaz:
https://doaj.org/article/a24c7cff9f9343de8099debe4018627f
Publikováno v:
Annals of Human Biology, Vol 48, Iss 4, Pp 307-312 (2021)
Context Thalassaemia is one of the most common inherited autosomal recessive disorders around the world. A considerable amount of literature has been published about the type of mutations and the prevalence of thalassaemia, but findings are often con
Externí odkaz:
https://doaj.org/article/55ff2b515b08480db16aa6e76e13b2a9
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results in the most severe ph
Externí odkaz:
https://doaj.org/article/c057a93b27b24f90b2d2112587225a37
Autor:
Divashini Vijian, Wan Suriana Wan Ab Rahman, Kannan Thirumulu Ponnuraj, Zefarina Zulkafli, Rosnah Bahar, Norafiza Yasin, Syahzuwan Hassan, Ezalia Esa
Publikováno v:
Diagnostics, Vol 13, Iss 5, p 894 (2023)
(1) Background: Alpha (α)-thalassaemia is a genetic disorder that affects 5% of the world population. Deletional or nondeletional mutations of one or both HBA1 and HBA2 on chromosome 16 will result in reduced production of α-globin chains, a compon
Externí odkaz:
https://doaj.org/article/ad5c9b5808104310ad78efb95ab36be8
Akademický článek
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Akademický článek
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Autor:
Amina Nardo-Marino, Andreas Glenthøj, John N. Brewin, David C. Rees, Henrik Birgens, Jørgen A. L. Kurtzhals, Jesper Petersen, Thomas N. Williams
Publikováno v:
Nardo-Marino, A, Petersen, J, Brewin, J N, Birgens, H, Williams, T N, Kurtzhals, J A L, Rees, D C & Glenthøj, A 2022, ' Oxygen gradient ektacytometry does not predict pain in children with sickle cell anaemia ', British Journal of Haematology, vol. 197, pp. 609-617 . https://doi.org/10.1111/bjh.17975
The loss of red blood cell (RBC) deformability in sickle cell anaemia (SCA) is considered the primary factor responsible for episodes of acute pain and downstream progressive organ dysfunction. Oxygen gradient ektacytometry (Oxygenscan) is a recently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a3eefa9accf382a28c4255a7c10d19
https://curis.ku.dk/portal/da/publications/oxygen-gradient-ektacytometry-does-not-predict-pain-in-children-with-sickle-cell-anaemia(178e786f-4d89-4ef6-92b3-56813579d72f).html
https://curis.ku.dk/portal/da/publications/oxygen-gradient-ektacytometry-does-not-predict-pain-in-children-with-sickle-cell-anaemia(178e786f-4d89-4ef6-92b3-56813579d72f).html
Autor:
Christina Hubbart, Vysaul B. Nyirongo, George B.J. Busby, Thomas N. Williams, Kirk A. Rockett, Anna E. Jeffreys, Gavin Band, Kate Rowlands, Rosalind M. Harding, Carolyne M. Ndila, Alexander Macharia
Publikováno v:
Wellcome Open Research
Background: The -α3.7I-thalassaemia deletion is very common throughout Africa because it protects against malaria. When undertaking studies to investigate human genetic adaptations to malaria or other diseases, it is important to account for any con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68f2df5ecaac7ef9cff182de995efc74
https://doi.org/10.12688/wellcomeopenres.16320.2
https://doi.org/10.12688/wellcomeopenres.16320.2
Autor:
Sachith Mettananda
Publikováno v:
Frontiers in Genome Editing
Frontiers in Genome Editing, Vol 3 (2021)
Frontiers in Genome Editing, Vol 3 (2021)
β-Thalassaemia is caused by over 300 mutations in and around the β-globin gene that lead to impaired synthesis of β-globin. The expression of α-globin continues normally, resulting in an excess of α-globin chains within red blood cells and their
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d518753443ed0ae7fede01dfc015f799
https://pubmed.ncbi.nlm.nih.gov/34713267
https://pubmed.ncbi.nlm.nih.gov/34713267