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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 2
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Short Communication

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

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Pages 157-160 | Received 23 Oct 2009, Accepted 06 Nov 2009, Published online: 30 Mar 2010
 

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.

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