Glanzmann's thrombasthenia(GT) is a rare autosomal recessive bleeding syndrome characterized by abnormal Glycoprotein Ⅱb/Ⅲa complex(GⅡb/Ⅲa) on platelets with resultant abnormality in platelet aggregation.There...Glanzmann's thrombasthenia(GT) is a rare autosomal recessive bleeding syndrome characterized by abnormal Glycoprotein Ⅱb/Ⅲa complex(GⅡb/Ⅲa) on platelets with resultant abnormality in platelet aggregation.There is very little information regarding polypectomy management in GT.We report a single patient with this rare disease,who underwent sequential endoscopic management of large colon polyps.Polypectomy in our GT patient was complicated by immediate and delayed bleeding.Multiple clips used after standard cautery polypectomy for a polyp 10 mm or larger in our GT patient,was most effective in preventing immediate and delayed post-polypectomy bleeding than other known therapeutic approaches.We favor preemptive use of multiple clips in large polypectomy defects for GT patients and we may argue the added cost may be offset by the reduction in the need for blood products,and by averting or shortening potential hospitalizations.展开更多
To editor:Glanzmann thrombasthenia(GT)is a rare autosomal recessive bleeding disorder that is characterized by a quantitative and/or qualitative defect in the platelet integrinαIIbβ3(previously known as glycoprotein...To editor:Glanzmann thrombasthenia(GT)is a rare autosomal recessive bleeding disorder that is characterized by a quantitative and/or qualitative defect in the platelet integrinαIIbβ3(previously known as glycoprotein(GP)IIb/IIIa),the major platelet receptor of fibrinogen.DefectiveαIIbβ3 can result in the absence of platelet aggregation.Pregnancy and delivery in women with GT can present specific challenges as there is a significant risk of both maternal and fetal bleeding.展开更多
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...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.展开更多
文摘Glanzmann's thrombasthenia(GT) is a rare autosomal recessive bleeding syndrome characterized by abnormal Glycoprotein Ⅱb/Ⅲa complex(GⅡb/Ⅲa) on platelets with resultant abnormality in platelet aggregation.There is very little information regarding polypectomy management in GT.We report a single patient with this rare disease,who underwent sequential endoscopic management of large colon polyps.Polypectomy in our GT patient was complicated by immediate and delayed bleeding.Multiple clips used after standard cautery polypectomy for a polyp 10 mm or larger in our GT patient,was most effective in preventing immediate and delayed post-polypectomy bleeding than other known therapeutic approaches.We favor preemptive use of multiple clips in large polypectomy defects for GT patients and we may argue the added cost may be offset by the reduction in the need for blood products,and by averting or shortening potential hospitalizations.
文摘To editor:Glanzmann thrombasthenia(GT)is a rare autosomal recessive bleeding disorder that is characterized by a quantitative and/or qualitative defect in the platelet integrinαIIbβ3(previously known as glycoprotein(GP)IIb/IIIa),the major platelet receptor of fibrinogen.DefectiveαIIbβ3 can result in the absence of platelet aggregation.Pregnancy and delivery in women with GT can present specific challenges as there is a significant risk of both maternal and fetal bleeding.
文摘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.
