Hb HELLUX [α76(EF5)Met->Ile (α2)]: A NEW NEUTRAL VARIANT FOUND IN A GREEK MALE
Kalmes G1, Golinska B1, Wodelet C1, Groff P1, Préhu C2,3, Riou J3, Wajcman H2,3
*Corresponding Author: Mr. Guy Kalmes, Laboratoire National de Santé, Division díHématologie, BP 1102, L-1011 Luxembourg; Tel.: +352-49-11-91-356; Fax: +352-405-402; E-mail: Guy.Kalmes@lns.etat.lu
page: 53

DISCUSSION

Residue α76 is mutated in Hb Hellux and is located in the loop connecting helix E and helix F (EF5). This variant is the fourth involving this position. The first is Hb Aztec (Met→Thr) [6], a stable neutral Hb whose α chain elutes earlier than normal a chains on reversed phase HPLC (RT 16.3) [4]. The others are Hb Walpole (Met→ Arg) and Hb Noko (Met→Lys), which have been reported in the HbVar database without any further information [7]. These variants are very probably hematologically silent. The EF region has a different function in the α and the β chains. In the β chain, EF5 corresponds to residue β81 and is located in the central cavity near to the position where 2,3-bisphosphoglycerate (2,3-BPG) binds. Thus, two known β variants of this site, Hb Baylor [β81(EF5)Leu→ Arg] [8] and Hb La Roche-sur-Yon [β81(EF5)Leu→His] [9], are mildly unstable and display a slightly increased oxygen affinity. In the a chains, this region does not seem to have a specific functional role.



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