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Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 6
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Short Communication

A New High Affinity Variant Hb Aurillac (β141Leu→Val)

Guilaine BoursierLaboratory of Hematology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France
,
Sébastien TrouillierDepartment of Internal Medicine, Henri Mondor Hospital, Aurillac, France
,
Muriel Giansily BlaizotLaboratory of Hematology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France
,
Hélène IgualLaboratory of Hematology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France
,
Jean-François SchvedLaboratory of Hematology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France
&
Patricia Aguilar MartinezLaboratory of Hematology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, FranceCorrespondence[email protected]
Pages 584-588 | Received 14 Jan 2013, Accepted 13 Mar 2013, Published online: 17 Jul 2013
 
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Abstract

Hemoglobin (Hb) variant β141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi [the other one being β144(HC1)Lys-Tyr-His→0 (HBB:c.433A>T)], was found as an isolated mutation. In contrast to what was suggested for Hb Kochi, the new variant was not clinically silent. It displayed increased oxygen affinity and was associated with mild erythrocytosis.

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