1.A case of thrombasthenia.
Yong Bae SUH ; Eun Kyoung SOHN ; Yong Mook CHOI ; Chang Il AHN
Journal of the Korean Pediatric Society 1991;34(2):287-291
No abstract available.
Thrombasthenia*
2.Three Cases of Glanzmann's Thrombasthenia.
Sung In BAEK ; Myung Chul HYUN ; Haeng Mi KIM ; Kun Soo LEE ; Doo Hong AHN ; Hyo Jin CHUN ; Jay Sik KIM
Journal of the Korean Pediatric Society 1985;28(11):1153-1157
No abstract available.
Thrombasthenia*
3.Two cases of Glanzmann's thrombasthenia in brother.
Won Mo YANG ; Hyung Kook HAM ; Mee Kyung NAMGOONG ; Baek Keun LIM ; Hong Sup YOON ; Kab Joon YOON
Journal of the Korean Pediatric Society 1989;32(11):1574-1580
No abstract available.
Humans
;
Siblings*
;
Thrombasthenia*
4.Analysis of platelet glycoprotein IIIa by flow cytometry and diagnosis of Glanzmann's thrombasthenia.
Myung Seo KANG ; Jae Yoon CHANG ; Kap Jun YOON ; Hwang Min KIM
Korean Journal of Clinical Pathology 1992;12(3):305-309
No abstract available.
Blood Platelets*
;
Diagnosis*
;
Flow Cytometry*
;
Integrin beta3*
;
Thrombasthenia*
5.A case of Glanzmann's thrombasthenia disagnosed by SDS-PAGE analysis of platelet membrane glycoprotein.
Kyung Eun OH ; Sook Hyun PARK ; Shin Heh KANG ; Chang Hyun YANG ; Kir Young KIM ; Kyung Soon SONG
Korean Journal of Hematology 1991;26(1):181-188
No abstract available.
Blood Platelets*
;
Electrophoresis, Polyacrylamide Gel*
;
Membrane Glycoproteins*
;
Membranes*
;
Thrombasthenia*
6.Anesthetic Management of a Patient with Glanzmann's Thrombasthenia: A case report.
Min Woo JEONG ; Kwang Suk SEO ; Hyun Jeong KIM ; Kwang Won YUM
Korean Journal of Anesthesiology 2007;53(3):407-410
Glanzmann's thrombasthenia is a rare autosomal recessive disorder characterized by bleeding tendency due to decreased coagulation function of platelets. Perioperative adequate blood transfusion including preoperative platelet transfusion seems to be the most important component affecting anesthetic management. Also, minimally invasive techniques should be used at the time of induction of anesthesia and the use of recombinant activated coagulation factor VII may be considered. We successfully conducted an anesthetic management for dental procedure in a four-year-old child with Glanzmann's thrombasthenia using preoperative platelet transfusion. Thus we present this anesthetic experience and share informations on anesthetic management of patients with Glanzmann's thrombasthenia.
Anesthesia
;
Blood Transfusion
;
Child
;
Factor VII
;
Hemorrhage
;
Humans
;
Platelet Transfusion
;
Thrombasthenia*
7.Anesthetic experience for orthopedic surgery on a patient with Glanzmann's thrombasthenia refractory to platelet transfusion: A case report.
Jung Bok PARK ; Yang Sik SHIN ; Soo Hwan KIM
Korean Journal of Anesthesiology 2009;57(4):507-510
Glanzmann's thrombasthenia is an autosomal recessive bleeding disorder caused by qualitative or quantitative abnormalities of the platelet glycoprotein IIb/IIIa (GP IIb/IIIa), which can lead to excessive bleeding. Glanzmann thrombasthenia is associated with clinical variability, with some patients only having minimal bruising and others having frequent, severe and potentially fatal hemorrhages. Platelet transfusions, which used to be the standard treatment, may lead to the development of antibodies to HLA and/or GPIIb/IIIa, thereby rendering future transfusions ineffective. Glanzmann's thrombasthenia can be a severe hemorrhagic disease; however, the prognosis is excellent with careful supportive care. In this case, administering allogenic plateletpheresis to patients with Glanzmann's thrombasthenia who were refractory to platelet transfusions was found to be successful during bone surgeries.
Anesthesia, General
;
Antibodies
;
Blood Platelets
;
Glycoproteins
;
Hemorrhage
;
Humans
;
Orthopedics
;
Platelet Transfusion
;
Plateletpheresis
;
Prognosis
;
Thrombasthenia
8.Quick diagnosis of glanzmann's thrombasthenia with flow cytometry.
Hai-dong FU ; Hong-qiang SHEN ; Bo-qin QIAN ; Yong-min TANG ; Hua SONG ; Shu-wen SHI ; Shi-long YANG
Chinese Journal of Pediatrics 2003;41(5):375-376
Child
;
Child, Preschool
;
Female
;
Flow Cytometry
;
methods
;
Humans
;
Infant
;
Male
;
Thrombasthenia
;
classification
;
diagnosis
9.Analysis of clinical features and genotype in three Chinese pedigrees with Glanzmann thrombasthenia.
Pei-Pei JIN ; Wei-Zhang SHEN ; Fang YANG ; Qiu-Lan DING ; Xue-Feng WANG ; Xiao-Dong XI ; Hong-Li WANG
Chinese Journal of Hematology 2008;29(3):149-153
OBJECTIVETo study the clinical feature and alpha II b beta 3 gene mutations of three Glanzmann thrombasthenia (GT) pedigrees.
METHODSPlatelet counts (BPC), blood film, bleeding time, platelet aggregation and flow cytometry were used for phenotype diagnosis of all the patients. All the exons of alpha II b and beta 3 genes were amplified by polymerase chain reaction (PCR) and direct sequencing was performed for mutational screening. One hundred and three healthy blood donors were as normal controls.
RESULTSThree probands showed normal BPC, defective platelets aggregation, prolonged bleeding time and significantly reduced platelet aggregation to ADP, epinephrine, and collagen, while relatively normal aggregation to ristocetin. Flow cytometry showed platelet surface expressed alpha II b beta 3 was strongly reduced in proband 1 and proband 3 and mildly reduced in the amount of surface expressed alpha II b beta 3 (63%) in proband 2. Sequencing results showed that proband 1 had a G10A homozygous mutation in alpha II b, and a G1412T homozygous mutation in beta3. Compound heterozygous mutations in beta3, G1199A and 1525delC were identified in proband 2. No mutations in alpha II b beta 3 gene were identified in proband 3.
CONCLUSIONSCompound homozygous mutations, GI0A in alpha II b and G1412T in beta3, lead to GT in proband 1. Compound heterozygous mutations in beta3, G1199A and 1525delC, lead to GT in proband 2. The mutations of G10A, G1412T and 1525delC were reported for the first time in GT patients.
Exons ; genetics ; Female ; Humans ; Male ; Mutation ; Pedigree ; Platelet Membrane Glycoprotein IIb ; genetics ; Thrombasthenia ; genetics
10.A case of Glanzmann's thrombasthenia diagnosed with flow cytometry and SDS-PAGE analysis of platelet membrane glycoprotein.
Yoon Jeong DOH ; Mi Hyang KIM ; Chung Hyun NAHM ; Kyung Soon SONG ; Oh HunK WON ; Kir Young KIM
Korean Journal of Hematology 1992;27(2):443-451
No abstract available.
Blood Platelets*
;
Electrophoresis, Polyacrylamide Gel*
;
Flow Cytometry*
;
Membrane Glycoproteins*
;
Membranes*
;
Thrombasthenia*