Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients.

INTRODUCTION: Mutations in the HFE gene have been shown to be associated with hemochromatosis which is observed in beta-thalassemia major. In this study, we determined the HFE gene mutations (C282Y and H63D) among b-thalassemia major patients to investigate the effect of these mutations on serum Ferritin levels. MATERIAL AND METHODS: In this cross-sectional study, a total of 105 b-thalassemia subjects with a history of regular blood transfusion were selected. They divided into two distinct groups according cut off 1000ng/ml of serum Ferritin levels. The HFE gene mutant allele detected by RFLP-PCR. RESULTS: Of 105 thalassemia patients, 29 patients (14 male and 15 female) were heterozygote for H63D mutation, and just one male was homozygote, but for C282Y mutation just one heterozygote and one homozygote was detected, and overall 31% had coexistence of b-thal and HFE gene mutations. As expected, Ferritin levels significantly differed between groups (P=0.001). CONCLUSION: The impact of detection of HFE mutations could prognosis the likelihood of iron overload in multi-transfused patients, and allowing early diagnosis and proper management to overcome complications of iron overload in beta-thalassemia patients.

In vitro assessment of platelet lesions during 5-day storage in Iranian Blood Transfusion Organization (IBTO) centers.

BACKGROUND AND OBJECTIVES: Platelet concentrates (PC) are used in thrombocytopenia and inherited or acquired platelet dysfunction disorders. Thus, retaining the platelets quality and function during storage will lead to desirable outcomes in treatment of such patients.  METHODS:  In this study, we evaluated 40 PC bags, prepared by PRP method in IBTO centers. We applied an array of assays, on first, third and fifth days of storage for PC quality control, including swirling, cell counting, bacterial contamination, measurement of CD62P, pH, and platelet aggregation test, to evaluate platelet lesion during storage.  RESULTS:  All units were negative for bacterial contamination. Swirling was positive for all units on various days; platelet count was in the acceptable range. Measurement of CD62P on fifth day was not significantly higher than third or first day (P > 0.15) (P > 0.05). pH on fifth day was significantly lower than first day (P < 0.01) (P < 0.05). Platelet aggregation with arachidonic acid and ristocetin showed significant decrease on fifth day compared to third day (P < 0.01) (P < 0.05). CONCLUSIONS: CD62P associated with other platelet function tests can be used as an activation marker in evaluation of PC functions during storage.

Evaluation of Alloimmunization Rate and Necessity of Blood Type and Screening Test among Patients Candidate for Elective Surgery.

INTRODUCTION: Alloimmunization is a reaction of the immune system to foreign antigens. For prevention of alloantibody formation, performing of type and screen test is necessary on a patient's blood specimen as part of pre-transfusion testing. MATERIALS AND METHOD: In this cross-sectional study, type and screen test done for 1420 patients with elective surgery for detection of alloantibody in Imam Khomeini hospital in Ardabil. RESULTS: Prevalence of alloantibody in this population was 0.92% (13 patients) and 99.2% (1407 patients) showed no alloantibody in their serum. The most prevalent alloantibody was anti-K, anti-E and anti-c. No significant relationship observed between sex and alloimmunization rate. CONCLUSION: Performance of type and screen test play an important role in reducing the rate of alloimmunization, and also, could reduce the demands for blood reservation in hospital blood banks.

Is there any relationship between Le(b) antigen expression and Helicobacter pylori infection?

INTRODUCTION: Helicobacter pylori infection is one of the main causes of peptic ulcer. There are some blood groups acting as receptors for the pathogen. Based on this view and previous attempts, we tried to examine the relationship between Lewis blood group and H. pylori infection. MATERIALS AND METHOD: Blood and saliva samples were collected from 60 patients with established peptic ulcer induced by H. pylori. Secretory status of each patient was determined by both direct agglutination and saliva tests. RESULTS: Seventy-two percent of the patients were secretor and expressed Lewis B antigen. This rate in control group was 61%. Statistical analysis showed no significant difference between the two groups. CONCLUSION: This study did not find any correlation between Le(b) antigen expression and presence of H. pylori-induced peptic ulcer. It is now recommended that other factors like Lewis(x) and sialyl Lewis(x) should be investigated in binding, colonization and virulence of H. pylori infection in the future.

Allele-specific oligonucleotide polymerase chain reaction for the determination of Rh C/c and Rh E/e antigens in thalassaemic patients.

BACKGROUND: Thalassaemia is a genetic disease in which there is a relative or complete lack of alpha or beta globin chains. Patients with moderate to severe forms of thalassaemia need transfusions from the early years of life. Antibody production against blood group antigens may cause many problems in preparing compatible blood units for transfusion. The identification of definite blood group phenotypes by the haemagglutination method can be difficult because of the mixed population of red blood cells from the donor and recipient. MATERIALS AND METHODS: Forty multiply transfused thalassaemic patients and ten healthy controls with no history of blood transfusion were enrolled in this study. Allele-specific oligonucleotide polymerase chain reaction (ASO-PCR) and haemagglutination methods were used to determine the presence of Rhesus (Rh) C, c, E and e antigens. RESULTS: In this study four primer sets were used for ASO-PCR amplification of RhC/c and RhE/e. Although PCR assays for RhC/c and RHE/e genotyping have been described previously, in this study we used a new condition for PCR by decreasing the annealing temperature from 63 °C to 58 °C in order to amplify all four genes in the same condition. In order to evaluate this single run molecular method, we used the haemagglutination test as the standard method and compared the results from the two methods. We found discrepancies between phenotype and genotype results among patients with beta thalassaemia, but complete agreement between phenotype and genotype in the control group. CONCLUSIONS: The advantage of this new ASO-PCR method compared to a restriction fragment length polymorphism (RFLP) PCR method is that with the former all four genes can be amplified at the same time by PCR, and electrophoresis can be performed immediately to determine individual antigen profiles. The simplicity of the ASO-PCR method makes it suitable for routine use in medical centres and it is also cheaper than RFLP-PCR. Furthermore, as shown by previous studies, the results of haemagglutination and PCR tests often differ because the existence of donor red blood cells in the patient's circulation can interfere with the interpretation of the haemagglutination test.