A novel ELISA for diagnosis of Glanzmann’s thrombasthenia and the heterozygote carriers

Lobo, Vivian; Shetty, Shrimati; Kulkarni, Bipin; Ghosh, Kanjaksha

doi:10.1007/s00277-011-1390-1

Cited by 3 publications

(4 citation statements)

References 18 publications

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“…Glanzmann'sthrombasthenia laboratory diagnosis depends on a series of studies on platelet aggregation, molecular biology, elisa, and flow cytometry (4) .…”

Section: Desiccationmentioning

confidence: 99%

“…the receptor GPIIb/IIIa on the platelets act as the target antigen. The use of ELISA technique for detection of cases in GT and also which is effective cost, easy, sensitive, and specific perform diagnosis (4). c.*1016T>A (rs3809865) and c. * 1479T> C (rs115310198) are located in the 3´UTR region of the ITGβ3 gene.…”

Section: Desiccationmentioning

confidence: 99%

“…As a result, no fibrinogen bind of platelets to other platelets can occur, and the bleeding time is significantly prolonged (3) . The Clinical manifestations of GT including lifelong bleeding, menorrhagia, gastrointestinal bleeding, and easy fall injury (4) .…”

Section: Introductionmentioning

confidence: 99%

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The ITGB3 Genevariant among Sample of Glanzmannthrombasthenia Iraqi Patients

2021

MLU

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Case control study was used,with Glanzmann's thrombasthenia (GT) patients (n=15) and healthy individual control (n=20).It was successfully identified three SNP in ITGB3 gene by using PCR technique and direct sequencing . The first SNP c. * 1479T> C (rs115310198) was presented with three genotypes (TT, TC and CC). The genotype frequencies of TT in control group (87.6 vs. 95 %) show non-significant difference (p>0.05) compared with GT patients . It was also noticed the frequency of mutant allele (C) revealed non-significant difference (p > 0.05) in GT patients compared with controls group (13.3 vs. 2.5%; OR = 6; EF = 0.03; 95% C.I. = 0.65 to 55.05) that mean (C) allele is risk factor associated with GT patients . The c.*713A>G (rs2317676) was given with three genotypes (AA, AG and GG) . The frequencies of these genotypes show non-significant difference (p>0.05) between control and GT patient,while the mutant allele (G) show non-significant difference (p > 0.05) in GT patients compared with controls group (16.6 vs. 5%; OR = 3.8; EF = 0.4; 95% C.I. = 0.70 to 20.63) and it was risk factors of patient GT. The c.*1016T>A (rs3809865) showed three genotypes (TT, TA and AA) with two alleles (T and A). The frequencies of these genotypes TT (87.6 vs. 85 %), TA (6.6vs. 15 %) and the third genotype AA (6.6 vs. 0%) show non-significant difference (p>0.05) between control and GT patient but the genotype (AA) (OR= 4.24) was considered as risk factors with GT patients . It was also found the mutant allele (A) revealed non-significant difference (p > 0.05) in GT patients compared with controls group (10 vs. 7.5%;OR = 1.37; EF = 0.11; 95% C.I. =0.26 to 7.14). (A) allele(OR = 1.37) is positively associated with GT patients and negatively associated with healthy subject .

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“…Glanzmann'sthrombasthenia laboratory diagnosis depends on a series of studies on platelet aggregation, molecular biology, elisa, and flow cytometry (4) .…”

Section: Desiccationmentioning

confidence: 99%

Section: Desiccationmentioning

confidence: 99%

See 1 more Smart Citation

The ITGB3 Genevariant among Sample of Glanzmannthrombasthenia Iraqi Patients

2021

MLU

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“…Recently, new diagnostic strategies have been proposed, including ELISA detection of GpIIbIIIa [53], polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) or allele-specific restriction analysis for prenatal diagnosis [50].…”

Section: Glanzmann Thrombastenia (Gt)mentioning

confidence: 99%

Laboratory diagnostics of inherited platelet disorders

Carubbi

Masselli

Nouvenne

et al. 2014

Clinical Chemistry and Laboratory Medicine (CCLM)

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Inherited platelet disorders (IPDs) are the general and common denomination of a broad number of different rare and congenital pathologies affecting platelets. Even if these disorders are characterized by widely heterogeneous clinical presentations, all of them are commonly present as defects in hemostasis. Platelet number and/or function are affected by a wide spectrum of severity. IPDs might be associated with defects in bone marrow megakaryocytopoiesis and, rarely, with somatic defects. Although in the last few years new insights in the genetic bases and pathophysiology of IPDs have greatly improved our knowledge of these disorders, much effort still needs to be made in the field of laboratory diagnosis. This review discusses the laboratory approach for the differential diagnosis of the most common IPDs, suggesting a common multistep flowchart model which starts from the simpler test (platelet count) ending with the more selective and sophisticated analyses.

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