First report of Hb youngstown in capillary electrophoresis and overlapping Hb analysis findings with Hb rush
Document Type
Article
Publication Date
7-1-2024
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.
Keywords
Hb Youngstown, Hb Rush, Unstable hemoglobin, Hybrid tetramer
Divisions
medicinedept
Publication Title
Hemoglobin
Volume
48
Issue
4
Publisher
Taylor & Francis Ltd
Publisher Location
2-4 PARK SQUARE, MILTON PARK, ABINGDON OR14 4RN, OXON, ENGLAND