Hb Perpignan [β136(H14)Gly→Ser], A Silent Variant Associated with Normal Hematology

Abstract

A second case of Hb Perpignan [β136(H14)Gly→Ser] was identified in a Burmese woman living in New Zealand. Although previously detected in France, this is the first formal description of the variant, which is electrophoretically silent and hematologically normal. This presentation as a benign substitution is in keeping with the low level of phylogenetic conservation of the H14 glycine.

Keywords:

• Hb mutation
• Mass spectrometry (MS)
• β-Globin locus
• Hb Perpignan