A Rare Interactions Between Heterozygous --SEA Deletion and Hb Ube-2 [α68 (E17) Asn →Asp]; First Reported Case from Malaysia

Norafiza Mohd Yasin
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Norafiza Mohd Yasin: Haematology Unit, Cancer Research Centre, Institute for Medical Research, Institute for Medical Research, National Institutes of Health, Ministry of Health, Malaysia

Biomedical Journal of Scientific & Technical Research, 2023, vol. 51, issue 4, 42867-42869

Abstract: To report a rare interaction between known pathogenic alpha variant (--SEA deletion) with another rare alpha variant, Hb Ube-2 [α68 (E17) Asn →Asp] among our population. This finding may support the current classification of the rare variant as benign or likely benign variant. To date, limited data available in the literature describing this abnormal hemoglobin variant in compound heterozygous state with another pathogenic variant. Identification of the patient confirmed that the interaction of these rare Hb variants with α0-thalassemia does not lead to the Hb H disease.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:51:y:2023:i:4:p:42867-42869

DOI: 10.26717/BJSTR.2023.51.008128

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