Changes in the High-Performance Liquid Chromatography Pattern of Hemoglobin Lepore After Treatment With Hydroxyurea

Autor:	Archana M. Agarwal, Derek L. Vanhille, Roberto Nussenzveig, Dottie Hussey
Rok vydání:	2013
Předmět:	Gel electrophoresis Hemoglobin Lepore Chemistry Biochemistry (medical) Clinical Biochemistry Genotype Hemoglobin variants Hemoglobin Compound heterozygosity High-performance liquid chromatography Molecular biology After treatment
Zdroj:	Laboratory Medicine. 44:245-247
ISSN:	1943-7730 0007-5027
DOI:	10.1309/lmfextw53plxib2u
Popis:	Hemoglobin (Hb) Lepore is a β+-thalassemic hemoglobin variant composed of 2 α-globin and 2 δβ-globin hybrid chains. Three common Hb Lepore variants have been identified based on the primary sequence of the fusion proteins. In most cases, diagnosis of Hb S/Hb Lepore compound heterozygosity is determined using a combination of high-performance liquid chromatography (HPLC) testing and acid/alkaline gel electrophoresis. Herein, we report an unusual case of Hb S/Hb Lepore, in which hydroxyurea therapy resulted in a change to the typical HPLC pattern, which confounded diagnosis. Our results emphasize the importance of having a detailed clinical history for proper diagnosis. In particular, the case reported herein demonstrates how diagnosis of a compound heterozygous Hb S/Hb Lepore genotype can be misinterpreted during routine Hb evaluation via HPLC if the patient has been treated with hydroxyurea. * HPLC : high-performance liquid chromatography; Hb : hemoglobin; PCR : polymerase chain reaction
Databáze:	OpenAIRE
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