Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta

• Published in: Genetics in medicine Vol. 5; no. 2; pp. 113 - 119
• Main Authors: Kato, Taichi, Kosaka, Kazuki, Kimura, Misa, Imamura, Shin-Ichiro, Yamada, Osamu, Iwai, Kazumasa, Ando, Masahiko, Joh-o, Kunitaka, Kuroe, Kenji, Ohtake, Akira, Takao, Atsuyoshi, Momma, Kazuo, Matsuoka, Rumiko
• Format: Journal Article
• Language: English
• Published: United States 01.03.2003
• Subjects: Adolescent; Adult; Blotting, Western; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; In Situ Hybridization, Fluorescence; Male; Phenotype; Platelet Count; Platelet Glycoprotein GPIb-IX Complex - genetics; Sequence Analysis, DNA; Thrombocytopenia - blood; Thrombocytopenia - genetics
• ISSN: 1098-3600
• DOI: 10.1097/01.GIM.0000056828.03164.30

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. 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. 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. 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.