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Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin
Author(s) -
GleleKakai Clement,
Garbarz Michel,
Lecomte MarieChristine,
Leborgne Sylvie,
Galand Colette,
Bournier Odile,
Devaux Isabelle,
Gautero Huguette,
Zohoun Isidore,
Gallagher Patrick G.,
Forget Bernard G.,
Dhermy Didier
Publication year - 1996
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 - 10.1046/j.1365-2141.1996.d01-1869.x
Subject(s) - spectrin , genetics , mutation , biology , epb41 , population , polymorphism (computer science) , gene , medicine , genotype , environmental health , cytoskeleton , cell
We studied an African population in Benin and discovered an unexpectedly high frequency (1.6%) of hereditary elliptocytosis (HE) among the 1447 subjects studied. In approximately two‐thirds of HE individuals we identified molecular defects, primarily those in erythrocyte α‐spectrin (dupL154, L260P and L207P mutations), as well as a novel mutation of erythrocyte β‐spectrin (β‐W2061R mutation). We also identified the genetic basis of a previously identified protein polymorphism of the αIII domain of spectrin (R1331I mutation). The genetic background of HE in the African population was studied using a number of polymorphisms of the α‐spectrin gene, including the αIII domain polymorphism. These studies suggest that the HE mutations appear to have originated from separate genetic backgrounds in this population.