
A NEW SILENT β CHAIN VARIANT: Hb HOUNSLOW [β 80(EF4)Asn→Tyr]
Préhu C1,2, Riou J2, Henthorn J3, Wajcman H1,2*
*Corresponding Author: Dr. Henri Wajcman, INSERM U841 eq 11, Hôpital Henri Mondor, 94010 Créteil, France; Tel.: +33(0)1-49-81-35-78; Fax: +31(0)148-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 29
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Abstract
We report a new neutral hemoglobin (Hb) variant, found, during neonatal screening, in a child originating from Afghanistan. This variant was revealed by cation exchange and reversed phase high performance liquid chromatography (HPLC), but was silent in electrophoretic methods except for globin chain electrophoresis in the presence of urea and Triton X-100. The structural modification was determined by protein structure studies and the substitution established by tandem mass spectrometry (MS/MS). The mutation, located near to the 2,3-diphosphoglycerate (2,3-DPG) binding site, was without any hematological consequences. The pitfalls presented by the presence of neutral Hb variants as modulator factors of the main hemoglobinopathies is discussed.
Key words: Hemoglobin (Hb) variant; Hemoglobinopathies; Modulator factors
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