Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta
- Genet Med. 2003 Mar-Apr;5(2):113-9. doi: 10.1097/01.GIM.0000056828.03164.30.
- 1. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Purpose: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-beta and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients with thrombocytopenia.
Methods: Platelet number, mean platelet volume, platelet agglutination, and the protein level of glycoprotein Ib-beta were measured in 22q11.2 deletion syndrome patients and controls. Phenotypes other than that of thrombocytopenia were also analyzed in these patients.
Results: The 22q11.2 deletion syndrome patients with thrombocytopenia had a larger mean platelet volume, lower agglutination to ristocetin, and lower protein level of glycoprotein Ib-beta than control patients. The 22q11.2 deletion syndrome patients with thrombocytopenia showed an increased risk of developing Schizophrenia.
Conclusions: Thrombocytopenia in 22q11.2 deletion syndrome patients is associated with decreased expression of glycoprotein Ib-beta because of the hemizygosity. 22q11.2 deletion syndrome patients with thrombocytopenia require total management, especially for Schizophrenia.