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A new α chain variant Hb Sallanches [α2 104(G11) Cys→Tyr] associated with HbH disease in one homozygous patient
Author(s) -
Morlé F.,
Francina A.,
Ducrocq R.,
Wajcman H.,
Gonnet C.,
Philippe N.,
Souillet G.,
Godet J.
Publication year - 1995
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1995.tb05355.x
Subject(s) - gene , mutation , disease , medicine , genetics , biology , microbiology and biotechnology
Summary. We identified a new α‐chain variant (α Sal ) associated with haemolytic anaemia and low level of HbH in one homozygous patient. This new mutation is located in codon 104 (TGC → TAC) of the a2 globin gene and results in a Cys→Tyr replacement. In vitro and in vivo biosynthetic studies suggest that the mechanism leading to HbH disease in this homozygous patient is mostly related to a significant instability of α Sal :β dimers rather than to the hyper‐instability of the α Sal chain itself only.