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https://doi.org/10.1080/03630269.2017.1351986
| Title: | Coinheritance of High Oxygen Affinity Hb Helsinki [HBB: c.248A > T; beta 82(EF6)Lys -> Met] with Hb H Disease | Authors: | Lee, Shir-Ying Goh, Jia-Hui Tan, Karen ML Liu, Te-Chih |
Keywords: | Science & Technology Life Sciences & Biomedicine Biochemistry & Molecular Biology Hematology Diagnosis electrophoresis Hb H disease Hb Helsinki high oxygen affinity GLOBIN GENE DELETIONS THALASSEMIA POPULATION ELECTROPHORESIS BINDING |
Issue Date: | 1-Jan-2017 | Publisher: | TAYLOR & FRANCIS LTD | Citation: | Lee, Shir-Ying, Goh, Jia-Hui, Tan, Karen ML, Liu, Te-Chih (2017-01-01). Coinheritance of High Oxygen Affinity Hb Helsinki [HBB: c.248A > T; beta 82(EF6)Lys -> Met] with Hb H Disease. HEMOGLOBIN 41 (3) : 209-212. ScholarBank@NUS Repository. https://doi.org/10.1080/03630269.2017.1351986 | Abstract: | Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value. | Source Title: | HEMOGLOBIN | URI: | https://scholarbank.nus.edu.sg/handle/10635/206520 | ISSN: | 03630269 1532432X |
DOI: | 10.1080/03630269.2017.1351986 |
| Appears in Collections: | Staff Publications Elements |
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| File | Description | Size | Format | Access Settings | Version | |
|---|---|---|---|---|---|---|
| HbHelsinki_Hemoglobin_Aug 2017_PMID28791912.pdf | 833.01 kB | Adobe PDF | CLOSED | None |
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