Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hb G‐Makassar"'
Publikováno v:
Journal of Blood Medicine, Vol Volume 15, Pp 255-264 (2024)
Roszymah Hamzah,1 Ahmad Sabry Mohamad,2 Norafiza Mohd Yasin,3 Ezalia Esa,3 Guo Chen,4 Veena Selvaratnam1 1Hematology Department, Ampang Hospital, Ampang, Selangor, Malaysia; 2Medical Engineering, Universiti Kuala Lumpur-British Malaysian Institute, G
Externí odkaz:
https://doaj.org/article/bf98c391d1a44d00a78bdf1d0d364e63
Autor:
Ezalia Esa, Ahmad Sabry Mohamad, Roszymah Hamzah, Faidatul Syazlin Abdul Hamid, Nur Aisyah Aziz, Veena Sevaratnam, Jameela Sathar, Guo Chen, Norafiza Mohd Yasin
Publikováno v:
eJHaem, Vol 4, Iss 4, Pp 940-948 (2023)
Abstract Haemoglobin (Hb) G‐Makassar is a rare Hb variant. It presents a diagnostic challenge as it imitates sickle Hb (Hb S) in standard electrophoresis and high‐performance liquid chromatography assays requiring DNA analysis to confirm diagnosi
Externí odkaz:
https://doaj.org/article/b43e13c9ad3e447b8414029b066c9f17
Autor:
Adam J. Hartigan, Daisy Lam, Jeffrey Marshall, Bob Gantzer, Kyle Rehberger, Nicole M. Gaudelli, Jenny Olins, Chavonna Xu, Bo Yan, Luis A. Barrera, Conrad Rinaldi, Paty Feliciano, Jeremy Decker, Daniel Haupt, Sarah Smith, S. Haihua Chu, Michael S. Packer, Valerie Winton, Matthew Lee, Tanggis Bohnuud, Ian Slaymaker, Teresa McDonald, Colin Lazarra, Salette Martinez, Manuel Ortega, David A. Born, Alexander Liquori, Giuseppe Ciaramella, Carlo Zambonelli
Publikováno v:
Blood. 138:951-951
Conversion of the pathogenic sickle allele to a naturally occurring, non-pathogenic hemoglobin variant, Hb G-Makassar, represents a long-term and durable treatment strategy for sickle cell disease (SCD). Using our engineered adenine base editor, we a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87fc38ac083cf1875f7dd8e0c3007d56
https://doi.org/10.1182/blood-2021-150922
https://doi.org/10.1182/blood-2021-150922
Autor:
Aranya Wiriyasateinkul, Vichai Laosombat, Vip Viprakasit, Benjamas Sattayasevana, Katie L. Miles
Publikováno v:
Hemoglobin. 26(3)
We report a Thai family in which five members are Hb G-Makassar heterozygotes and one member is, in addition, a heterozygote for beta0-thalassemia (IVS-I-1, G--T). We confirm that the previously presumed mutation at codon 6 of the beta-globin gene is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77a787b8b1423a7ccfb859b6b9d5997e
https://pubmed.ncbi.nlm.nih.gov/12403489
https://pubmed.ncbi.nlm.nih.gov/12403489
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Protein Structure. 214:396-401
Hb G Makassar was found in a young male resident of Makassar, Sulawesi (Celebes), Indonesia during a survey in 1969. The singly-slow variant now has been shown to have its structural anomaly at the β-6 or A3 position where the glutamyl residue norma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f7a2d2b73b282bf8f7bff6829be9be9
https://doi.org/10.1016/0005-2795(70)90297-7
https://doi.org/10.1016/0005-2795(70)90297-7
Autor:
Esa E; Institute for Medical Research Setia Alam Selangor Malaysia., Mohamad AS; Medical Engineering Universiti Kuala Lumpur British Malaysian Institute Gombak Selangor Malaysia., Hamzah R; Hematology Department Ampang Hospital Ampang Selangor Malaysia., Hamid FSA; Institute for Medical Research Setia Alam Selangor Malaysia., Aziz NA; Institute for Medical Research Setia Alam Selangor Malaysia., Sevaratnam V; Hematology Department Ampang Hospital Ampang Selangor Malaysia., Sathar J; Hematology Department Ampang Hospital Ampang Selangor Malaysia., Chen G; Beam Therapeutics Inc. Cambridge Massachusetts USA., Yasin NM; Institute for Medical Research Setia Alam Selangor Malaysia.
Publikováno v:
EJHaem [EJHaem] 2023 Aug 10; Vol. 4 (4), pp. 940-948. Date of Electronic Publication: 2023 Aug 10 (Print Publication: 2023).