摘要
Background Glanzmann thrombasthenia （GT） is an autosomal recessive bleeding disorder characterized by the tendency to hemorrhage and the inability of platelets to aggregate in response to agonists. GT is caused by a defect of the platelet glycoprotein lib/Ilia complex. The objective of this study was to describe the clinical features and the genetic cause of GT in a 6-year-old girl from south China. Methods A three-generation family was studied. The proband patient aged 6 years and her parents undertook examinations of platelet counts, blood film, bleeding time, platelet aggregation, and flow cytometry. All coding exons of the ITGA2B and ITGB3 genes were amplified by polymerase chain reaction （PCR）, and direct sequencing was performed for mutational screening on the patient and normal controls consisted of 52 healthy blood donors. Reverse transcription PCR was conducted to test for exon skipping. Results The proposita patient showed dispersing platelets, prolonged bleeding time, and severely reduced platelet aggregation in response to the physiological agonists adenosine diphosphate （ADP）, epinephrine, collagen, and ristocetin. Flow cytometric measurements showed that the contents of allb and 133 were significantly decreased. Sequencing results demonstrated two different types of heterozygous mutations existed in the allb gene （c.2930delG and IVS15-1delG）. The compound mutations were also confirmed in the patient＇s mother and father separately. Conclusions The allbβ3 deficiency of the proband was caused by two compound ITGA2B mutations, which were first reported in Chinese GT patients. The IVS15-1delG was first confirmed to cause an exon skipping.
Background Glanzmann thrombasthenia （GT） is an autosomal recessive bleeding disorder characterized by the tendency to hemorrhage and the inability of platelets to aggregate in response to agonists. GT is caused by a defect of the platelet glycoprotein lib/Ilia complex. The objective of this study was to describe the clinical features and the genetic cause of GT in a 6-year-old girl from south China. Methods A three-generation family was studied. The proband patient aged 6 years and her parents undertook examinations of platelet counts, blood film, bleeding time, platelet aggregation, and flow cytometry. All coding exons of the ITGA2B and ITGB3 genes were amplified by polymerase chain reaction （PCR）, and direct sequencing was performed for mutational screening on the patient and normal controls consisted of 52 healthy blood donors. Reverse transcription PCR was conducted to test for exon skipping. Results The proposita patient showed dispersing platelets, prolonged bleeding time, and severely reduced platelet aggregation in response to the physiological agonists adenosine diphosphate （ADP）, epinephrine, collagen, and ristocetin. Flow cytometric measurements showed that the contents of allb and 133 were significantly decreased. Sequencing results demonstrated two different types of heterozygous mutations existed in the allb gene （c.2930delG and IVS15-1delG）. The compound mutations were also confirmed in the patient＇s mother and father separately. Conclusions The allbβ3 deficiency of the proband was caused by two compound ITGA2B mutations, which were first reported in Chinese GT patients. The IVS15-1delG was first confirmed to cause an exon skipping.
