Beta 2 glycoprotein I Valine247Leucine polymorphism in patients with antiphospholipid syndrome

Aim: Beta 2 Glycoprotein I (β2-GP I) takes part in the pathogenesis of antiphospholipid syndrome (APS). Valine247Leucine (Val247Leu) gene polymorphism of β2-GP I might affect the binding/production of anti-β2-GP I antibodies. Multiple studies are showing different frequencies of this polymorphism in various ethnic backgrounds; we aimed to determine the frequency and clinical importance of Val247Leu gene polymorphism of β2-GP I in patients with APS and healthy. Methods: Eighty-three patients with APS [68 primary APS, 15 APS with systemic lupus erythematosus (SLE)] and 63 healthy individuals were included. Β2-GP I Val247Leu polymorphism was determined by quantitative real time polymerase chain reaction and melting curve analysis. The presence of anti-β2-GP I antibodies was detected by ELISA in the patient group. Results: Allele and genotype frequencies were similar between patients and healthy controls (p=0,307). V allele and VV genotype frequencies were significantly higher in primary APS patients with thrombocytopenia (p=0.040). There was no significant difference between β2-GP I Val247Leu gene polymorphism and the anti-β2-GP IgM and IgG antibody levels in the patient group (p=0.631 and p=0.077, respectively) Conclusion: This is the first study investigating the β2-GP I Val247Leu gene polymorphism in the Turkish population. The frequencies of Val247Leu gene polymorphism of β2-GP I were not different between patients with APS and healthy individuals in line with the other studies in Caucasian populations. Significantly high levels of V allele and VV genotype frequencies in primary APS patients could offer further insight to into the pathogenesis of thrombocytopenia in APS

Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

WOS: 000331900300037PubMed ID: 24319190Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients

Cyclic thrombocytopenia: A case report

Cyclic thrombocytopenia (CTP) is a rare disorder characterized by periodic decreases and increases in platelet levels. Each cycle usually spans a period of 3-5 weeks. Clinical features are similar to those of idiopathic thrombocytopenic purpura (ITP), so patients are frequently misdiagnosed as having ITP. However, CTP usually does not respond to most treatments used in ITP such as corticosteroids, splenectomy and intravenous immunoglobulin. In this case report, we present a 33-year-old woman with CTP misdiagnosed as ITP. (Turk J Hematol 2010; 27: 196-9

Overexpression of Fc mu receptor (FCMR, TOSO) gene in chronic lymphocytic leukemia patients

WOS: 000303539000103PubMed ID: 21264533Rai and Binet staging systems that have been used as a standard method for evaluating the prognosis of chronic lymphocytic leukemia (CLL) have some restrictions in distinguishing the early stage CLL patients that will progress rapidly. To solve this shortcoming, prognostic parameters other than staging have become important in the recent years. Intracellular upregulation of Fc mu receptor (FCMR, FAIM3/TOSO) gene in the leukemic lymphocytes of the patients with CLL may be an important parameter in predicting the progression of the disease. In this study, FCMR mRNA expression levels were evaluated in 50 CLL patients and in 50 healthy controls. FCMR mRNA expression was found to be significantly higher in CLL patients than in healthy controls. We, then, evaluated FCMR mRNA levels according to the stages of CLL. Rai stage 0, I, II cases were compared with stage III and IV, and Binet A was compared with Binet B and C according to FCMR mRNA levels. In cases with higher risks, Rai stage III, IV and Binet stage B and C, FCMR mRNA levels were also significantly higher. In addition, overexpression of the FCMR seems to be promoting the chromosomal abnormalities. As a result, we found that the mRNA levels of FCMR in the CLL patients are 23-fold higher than that of the control group and this may suggest that it can be associated with the disease progression and survival. For this reason and because of the simplicity of analyzing with Q-PCR, it can be a useful clinical parameter, after its importance has been shown in larger and multi-variate studies

Could Anticoagulation or Antiaggregation Treatment Be Ceased in Patients With Primary Antiphospholipid Syndrome When Antiphospholipid Antibodies Become Persistently Negative?

WOS: 000408513200012PubMed ID: 28832383

The Significance and Management of Thrombocytopenia in Antiphospholipid Syndrome

WOS: 000351442600003PubMed ID: 25740703The association between antiphospholipid antibodies (aPL) and clinical problems goes beyond what is stated in the antiphospholipid syndrome (APS) classification criteria, namely thrombosis and pregnancy morbidity, and thrombocytopenia is the most common non-criteria hematologic manifestation of aPL with a frequency ranging from 20 to 50 %. Thrombocytopenia is rarely severe, and hemorrhage is far less common than thrombosis. However, when anticoagulation is considered, it may constitute a clinical problem with increased bleeding risk. Furthermore, thrombocytopenia represents a risk factor for thrombosis in aPL-positive patients. Therefore, it is important to understand the pathogenesis and the clinical associations of thrombocytopenia to build the right medical approach in aPL-positive patients. In this paper, we review the literature on aPL/APS-associated thrombocytopenia and briefly discuss the other conditions that can result in thrombocytopenia as they have commonalities with APS and their recognition is important to establish the most appropriate treatment strategy