| Autor: |
C. Cheetham-Wilkinson, Graham A. Smith, Angela Rankin, E. Ranasinghe, Nicholas A. Watkins, C. Riddle, Willem H. Ouwehand |
| Rok vydání: |
2007 |
| Předmět: |
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| Zdroj: |
Vox Sanguinis. 93:325-330 |
| ISSN: |
0042-9007 |
| DOI: |
10.1111/j.1423-0410.2007.00968.x |
| Popis: |
Background and Objectives Fetomaternal alloimmune thrombocytopenia (FMAIT) is caused by maternal antibodies against a human platelet antigen (HPA) present on fetal, but absent from maternal platelets. We identified and characterized a case of FMAIT due to anti-HPA-1a in a mother with an HPA-1a1b genotype. Materials and Methods The first child of a 29-year-old mother presented with a petechial rash and a platelet count of 8 × 109 per l. Upon routine serological investigation, a discrepancy between the HPA-1a genotype and phenotype prompted the sequencing of the 15 exons of the ITGB3 (integrin β3, GPIIIa and CD61) gene in the mother. Results The mother was genotypically HPA-1a1b heterozygous but phenotyped as HPA-1a negative. Sequencing of the ITGB3 exons confirmed HPA-1a1b heterozygosity, but also identified a novel single nucleotide insertion in exon 10 leading to a frameshift and premature termination at amino acid 471 of ITGB3. Maternal anti-HPA-1a was detected but with a pattern typical for a low-affinity antibody. Three transfusions of HPA-1a and -5b negative neonatal platelet concentrates were required to return to a safe platelet count. Conclusion A rare ITGB3 allele was uncovered by the investigation of a severe case of alloimmune thrombocytopenia in a mother with HPA-1a antibodies who genotyped as HPA-1a1b. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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