Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

✍ Scribed by Philippe Maillet; Nicole Alloisio; Laurette Morlé; Jean Delaunay

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 1006 KB
• Volume: 8
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1996)8:2<97::aid-humu1>3.0.co;2-m

✦ Synopsis

Communicated b~ R. G. H. Cotton

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 SPTAl and SPTB genes that encode erythroid spectrin a-and p-chains, respectively. In situ, spectrin is a azPz fibrillar tetramer resulting from the head-toehead self-association of two a p dimers. In HE, the 24 known aschain mutations lie in the self-association site or its vicinity, whereas the 17 P-chain mutations occur in the self-association site itself (record of November 30, 1995). Allele aLELy (LELY: Low Expression LYon) is found in ethnic groups remote from one another with a uniform frequency (20-30% of all a-alleles). It allows an expanded expression of any HE a-allele located in trans and results in severe HE or in HPP. In HS, a number of spectrin mutations have been recorded recently.

Allele aLEpRA (LEPRA: Low Expression PRAgue) would occur in a recurrent fashion.