[Frequency of thrombophilia gene polymorphisms: factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate-reductase and platelet PLA2 antigen in Shahrekord]

Inherited thrombophilic gene polymorphisms have been related to the pathogenesis of venous thromboembolism and its outcomes. Considering the scarcity of data on the frequency of the thrombophilic gene polymorphisms in Iranian populations, the aim of this study was to assess such polymorphisms in healthy individuals. This cross-sectional study was performed on 304 healthy blood donors with no history of venous thromboembolism in Shahrekord. Venous blood was collected in EDTA-treated tubes and then, genotyping of the factor V Leiden, prothrombin G20210A, MTHFR C677T and PLA2 polymorphisms was done using PCR - RFLP. Six [1.97%] cases were heterozygous for factor V Leiden and one was homozygous. Ninty-four [30.92%] and 11 [3.62%] subjects were heterozygous and homozygous for MTHFR C677T, respectively. Two [0.6%] cases were heterozygous for prothrombin G20210A and there was no homozygous case. Twenty-eight [9.2%] and 2 [0.6%] cases were heterozygous and homozygous for PLA2, respectively. In addition, 44.6% of the study population and 14.5%, with the deletion of MTHFR C677T, carried at least one thrombophilia polymorphism. The frequency of thrombophilia polymorphisms is different from the previously published data in Caucasians and also the limited existing data in Kermanshah [Iran]. Moreover, the discrepancies may be associated with the ethnic differences and sample selection

[Factor XIIIA-V34L and factor XIIIB-H95R gene polymorphisms in Shahrekord, 2010, I.R.Iran]

Some of the inherited coagulation factor polymorphisms have been related to the pathogenesis of venous thromboembolism and other adverse outcomes. As there are limited data on the prevalence of these polymorphisms in Iranian populations this study aimed to assess two factor XIII polymorphisms, FXIIIA-V34L and FXIIIB-H95R, in healthy individuals. In this cross sectional study 150 healthy blood donors from Shahrekord, Iran with no history of venous thromboembolism were recruited to the study. Genotyping from EDTA taken venous blood for the above polymorphisms was under taken by PCR - RFLP. Fifty one [34%] of participants were heterozygous for VL and 7[4.67%] were homozygous LL. 26 [17.33%] and 1[0.67%] were heterozygous and homozygous for RH and RR of FXIIIB respectively. 48.67% of the study population carried at least one of the above polymorphisms and there was no carrier of both as homozygous. The prevalence of these FXIII polymorphisms in healthy subjects is somehow similar to previously published data in Caucasian populations, but quite different than limited existing data from China and other ethnic groups. Such findings could be relevant to the ethnic similarities and differences

[Significance of CMV-seropositivity in the alterations of CD4[+] T- cell subsets and expression of their phenotyping markers in B-cell chronic lymphocytic leukemia]

B-cell chronic lymphocytic leukemia [B-CLL] is a B-cell malignancy which has been associated with a variety of abnormalities in non-malignant T cells. Viral antigens are able to produce profound alterations in T-cell and cytomegalovirus [CMV] has been involved in T-cell abnormalities in healthy elderly individuals. Therefore, the relationship between these changes and CMV was studied in CLL patients. This was a cross sectional study and included 79 B-CLL patients [41 CMV seropositive and 38 CMV seronegative]. The cell counting was done by Coulter cell counter. The T-cell subgroups and cell phenotype were studied by monoclonal antibodies and flow cytometry. The secretion of cytokine was detected by intracellular cytokine staining post stimulation and short time culture. CD8[+] and CD4[+]CD8[dim] T cell subgroups were significantly more in CMV[+] patients than CMV negatives [P<0.01]. IFN-gamma producing T cells were significantly more in CMV [+] patients, whereas IL-2 producing T cells were more in CMV[-] patients [P<0.05 and P<0.01, respectively]. A prominent decrease was seen in the expression of CD27, CD28, CD45RA and CCR7 in CMV[+] patients, whereas CD45RO and CD57 showed significant rise [P<0.05 and P<0.001, respectively]. CMV seropositivity causes broad alterations in T-cells and expression of terminally differentiated phenotype in B-CLL patients. Therefore, such profile in B-CLL is highly related to CMV seropositivity

[High level of CMV -specific CD4[+] and CD8[+] cells immune response and correlation between them in B-cell Chronic Lymphocytic Leukemia Patients]

Chronic lymphocytic leukemia [CLL] is characterized by a monoclonal proliferation of lymphocytes mainly B cells [B-CLL] in the blood and bone marrow. Morphological and functional abnormalities of T cells and monoclonality of them have been documented in CLL. Such expanded cells may be specific for recognition of pathogens. Cytomegalovirus [CMV] is most likely involved in this phenomenon in CLL. CMV infection causes a high level of immune response in immunodeficient patients. In this study, the association between expanded T cells and the immune responses of CWV-specific CD4[+] and CD8[+] cells in B-CLL was investigated. This was a cross sectional study and the study group were 41 CMV seropositive B-CLL patients and 35 CMV seropositive healthy donors [control group]. The level of CMV-specific CD4[+] and CD8[+] cells immune responses were detected by intracellular cytokine response to antigenic activation and CMV tetramer respectively. The level of CMV-specific CD4[+] cells responses was significantly higher in patients with a median of 10.99% and 1 1% for IFN-y and TNF-a producing CD4+T cells respectively than age-matched controls with a median of 4.3% and 4.6 [p= 0.0001 for IFN-[gamma] and p= 0.003 for TNF-[alpha]]. The level of CMV-specific CD8[+] cells immune responses was also higher in patients compared to control group [p= 0.03 for NLV]. There was a positive correlation between the level of CD4[+] and CD8[+] cells immune responses [p=0.009]. These results show the deep influence of CMV infection and the immune response to it in T-cell alteration in CLL patients. The increased level of CMV-specific T cells may be the cause of increased level of absolute T cells in these patients