Maillet P, Alloisio N, Morlé L, Delaunay J
Laboratoire de Génétique Moléculaire Humaine CNRS URA 1171, Institut Pasteur de Lyon, France.
Hum Mutat. 1996;8(2):97-107. doi: 10.1002/(SICI)1098-1004(1996)8:2<97::AID-HUMU1>3.0.CO;2-M.
Hereditary elliptocytosis (HE), its aggravated form hereditary pyropoikilocytosis (HPP), and hereditary spherocytosis (HS) designate a set of congenital hemolytic syndromes. The responsible mutations lie in several genes encoding proteins of the red cell membrane. In particular, they involve the SPTA1 and SPTB genes that encode erythroid spectrin alpha- and beta-chains, respectively. In situ, spectrin is a alpha 2 beta 2 fibrillar tetramer resulting from the head-to-head self-association of two alpha beta dimers. In HE, the 24 known alpha-chain mutations lie in the self-association site or its vicinity, whereas the 17 beta-chain mutations occur in the self-association site itself (record of November 30, 1995). Allele alpha LELY (LELY: Low Expression LYon) is found in ethnic groups remote from one another with a uniform frequency (20-30% of all alpha-alleles). It allows an expanded expression of any HE alpha-allele located in trans and results in severe HE or in HPP. In HS, a number of spectrin mutations have been recorded recently. Allele alpha LEPRA (LEPRA: Low Expression PRAgue) would occur in a recurrent fashion.
遗传性椭圆形红细胞增多症（HE）、其严重形式遗传性热异形红细胞增多症（HPP）以及遗传性球形红细胞增多症（HS）是一组先天性溶血性综合征。相关突变存在于几个编码红细胞膜蛋白的基因中。特别是，这些突变涉及分别编码红细胞血影蛋白α链和β链的SPTA1和SPTB基因。在原位，血影蛋白是由两个αβ二聚体头对头自我缔合形成的α2β2纤维状四聚体。在HE中，已知的24种α链突变位于自我缔合位点或其附近，而17种β链突变则发生在自我缔合位点本身（1995年11月30日记录）。等位基因αLELY（LELY：低表达里昂）在彼此相距遥远的种族群体中以一致的频率被发现（占所有α等位基因的20% - 30%）。它能使位于反式的任何HEα等位基因得到扩展表达，并导致严重的HE或HPP。在HS中，最近记录了一些血影蛋白突变。等位基因αLEPRA（LEPRA：低表达布拉格）可能会以复发的方式出现。
