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 Blood, 15 December 2005, Vol. 106, No. 13, pp. 4367-4369.
Prepublished online as a Blood First Edition Paper on September 8, 2005; DOI 10.1182/blood-2005-05-1813.

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RED CELLS
Brief report

A novel splicing mutation of the {alpha}-spectrin gene in the original hereditary pyropoikilocytosis kindred

Daniel B. Costa, Larisa Lozovatsky, Patrick G. Gallagher, and Bernard G. Forget

From the Departments of Medicine and Pediatrics, Yale University School of Medicine, New Haven, CT.

Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia due to abnormalities of the red blood cell (RBC) membrane skeleton. In the original HPP kindred, there is compound heterozygosity for an allele encoding a structural variant of {alpha}-spectrin (L207P) and an {alpha}-spectrin allele associated with a defect in {alpha}-spectrin production. To identify the molecular defect in the production-defective allele, reticulocyte {alpha}-spectrin cDNA from one of the original HPP patients was analyzed. Transcripts from the production-defective, non-L207P allele demonstrated a pattern of abnormal splicing between exons 22 and 23, resulting in insertion of intronic fragments with an in-frame premature termination codon. A G to A substitution at position +5 of the donor consensus splice site of IVS 22 was identified in the inserts. Following gene transfer into tissue culture cells, there was complete absence of normally spliced {alpha}-spectrin gene transcripts derived from a minigene containing the IVS 22 +5 mutation.


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