Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.
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 alpha-spectrin (dupL154, L260P and L207P mutations), as well as a novel mutation of erythrocyte beta-spectrin (beta-W2061R mutation). We also identified the genetic basis of a previously identified protein polymorphism of the alpha III domain of spectrin (R1331I mutation). The genetic background of HE in the African population was studied using a number of polymorphisms of the alpha-spectrin gene, including the alpha III domain polymorphism. These studies suggest that the HE mutations appear to have originated from separate genetic backgrounds in this population.
Glele-Kakai
C
C
INSERM U409, Faculté X. Bichat, Paris, France.
Garbarz
M
M
Lecomte
M C
MC
Leborgne
S
S
Galand
C
C
Bournier
O
O
Devaux
I
I
Gautero
H
H
Zohoun
I
I
Gallagher
P G
PG
Forget
B G
BG
Dhermy
D
D
D001541:Benin / Q000453:epidemiology; D004612:Elliptocytosis, Hereditary / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin