First report of Hb youngstown in capillary electrophoresis and overlapping Hb analysis findings with Hb rush

Poh, Kim Yan and Bee, Ping Chong (2024) First report of Hb youngstown in capillary electrophoresis and overlapping Hb analysis findings with Hb rush. Hemoglobin, 48 (4). pp. 254-257. ISSN 0363-0269, DOI https://doi.org/10.1080/03630269.2024.2398236.

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Abstract

Hb Youngstown HBB:c.305A > C] is a rare unstable hemoglobin caused by the substitution of glutamic acid with alanine at codon 101 of the Beta globin chain. It causes hemolytic anemia in the heterozygous state. This is a case of a six-year-old Chinese-Javanese girl with heterozygous Hb Youngstown and clinical features of chronic hemolysis and iron overload. Hb Youngstown appears at the S window near to 4.6 minutes on high-performance liquid chromatography (HPLC) and can form a hybrid tetramer on alkaline gel electrophoresis seen as two distinct bands cathodal to A and close to F. For the first time, Hb Youngstown is captured with capillary electrophoresis (CE) and shown to be eluted at zone 8. Clinical presentation and Hb analysis results of this heterozygous Hb Youngstown overlap with heterozygous Hb Rush. They can only be differentiated at molecular level by Beta globin gene sequencing or intact mass spectrometry.

Item Type: Article
Funders: UNSPECIFIED
Uncontrolled Keywords: Hb Youngstown; Hb Rush; Unstable hemoglobin; Hybrid tetramer
Subjects: R Medicine
Divisions: Faculty of Medicine > Medicine Department
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 21 Oct 2025 01:28
Last Modified: 21 Oct 2025 01:28
URI: http://eprints.um.edu.my/id/eprint/46533

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