Article
HPA-1a phenotype-genotype discrepancy reveals a naturally occurring Arg93Gln substitution in the platelet beta 3 integrin that disrupts the HPA-1a epitope.
Blood - 1 Mar 2002
Watkins Nicholas A, Schaffner-Reckinger Elisabeth, Allen David L, Howkins Graham J, Brons Nicolaas H C, Smith Graham A, Metcalfe Paul, Murphy Michael F, Kieffer Nelly, Ouwehand Willem H
Abstract excerpt
A single nucleotide polymorphism (SNP) at position 196 in the beta 3 integrin causes a Leu33Pro substitution in the mature protein. Alloimmunization against the beta 3Leu33 form (human platelet antigen [HPA]-1a, Pl(A1), Zw(a)) in patients who are beta 3Pro33 homozygous (HPA-1b1b, Pl(A2A2), Zw(bb)) causes neonatal alloimmune thrombocytopenia, posttransfusion purpura, or refractoriness to platelet transfusion....
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