A genomic deletion causes truncation of alpha-spectrin and ellipto-poikilocytosis

作者：Iolascon A^*; King M J; Robertson S; Avvisati R A; Vitiello F; Asci R; Scoppettuolo M N; Delaunay J

来源：Blood Cells, Molecules, and Diseases, 2011, 46(3): 195-200.

DOI：10.1016/j.bcmd.2010.12.006

• Elliptocytosis
• Spectrin-alpha
• Red cell membrane
• Cytoskeleton

We report on a truncated alpha-spectrin chain, spectrin(Exeter), associated with ellipto-poikilocytosis. Analysis of erythrocyte membranes of affected individuals revealed a truncated alpha-spectrin chain with normal amounts of spectrin dimer. In the proband and her father, one haploid set of alpha-spectrin cDNA lacked exons 11 and 12, leading to partial deletion of repeats alpha 4 and alpha 5 (83 amino acids) of the alpha-spectrin chain. In one allele of genomic DNA, a 3567 bp deletion starting in intron 10 and ending in intron 12 of the SPTA 1 gene was found. The common polymorphic SPTA 1 alpha(LELY) allele was found in trans to the SPTA 1 alpha Exeter allele in the proband. The proband had inherited the SPTA 1 Exeter allele from her father and the alpha LELY allele from her healthy, asymptomatic mother. This is the first report of an interstitial deletion in the SPTA 1 gene associated with ellipto-poikilocytosis.

• 出版日期2011-3-15