[Molecular pathology of inherited Glanzmann's thrombasthenia. Report of 11 cases].
Glycoprotein IIb-IIIa (GPIIb-IIIa) concentration was studied in 11 patients with Glanzmann's thrombasthenia (GT) with sensitive Western blotting technique. 7 patients with severe GPIIb-IIIa deficiency (less than 10% of the normal) were designated as type I (64% of patients), 2 patients with moderate GPIIb-IIIa deficiency (10-25% of the normal) as type II (18%) and 2 patients with GPIIb-IIIa 40-100% of the normal as variants (18%). Southern Blotting was used to analyze the GPIIb and GPIIIa genes in the 11 patients. The results showed that there were no major deletions or insertions in either the GPIIb or GPIIIa genes. However, a small change in GPIIb gene was demonstrated in two sibling patients and the abnormality of GPIIIa gene was found in another two patients. These observations combined with those from literature provide a basis for discussing the molecular pathology of Glanzmann's thrombasthenia.
Ruan
C G
CG
Jiangsu Institute of Hematology, Thrombosis and Haemostasis Research Unit, Suzhou Medical College.
Gu
J M
JM
Li
J Y
JY
D000293:Adolescent; D015139:Blotting, Southern; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010980:Platelet Membrane Glycoproteins / Q000032:analysis* / Q000235:genetics; D017354:Point Mutation; D013915:Thrombasthenia / Q000097:blood* / Q000235:genetics
D010980:Platelet Membrane Glycoproteins