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A new high affinity variant Hb Aurillac (β141Leu→Val)

Guilaine Boursier1, Sébastien Trouillier, Muriel Giansily Blaizot

  • 1Laboratory of Hematology, Saint-Eloi Hospital , CHU de Montpellier, Montpellier , France.

Hemoglobin
|July 18, 2013
PubMed

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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