No abstract available.
Thrombasthenia*

No abstract available.
Thrombasthenia*

No abstract available.
Humans ; Siblings* ; Thrombasthenia*

No abstract available.
Blood Platelets* ; Diagnosis* ; Flow Cytometry* ; Integrin beta3* ; Thrombasthenia*

No abstract available.
Blood Platelets* ; Electrophoresis, Polyacrylamide Gel* ; Membrane Glycoproteins* ; Membranes* ; Thrombasthenia*

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

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*

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

Child ; Child, Preschool ; Female ; Flow Cytometry ; methods ; Humans ; Infant ; Male ; Thrombasthenia ; classification ; diagnosis

No abstract available.
Blood Platelets* ; Electrophoresis, Polyacrylamide Gel* ; Flow Cytometry* ; Membrane Glycoproteins* ; Membranes* ; Thrombasthenia*