Determination of Lipid Profile in Preschool Children and Pre- college Students with Beta-thalassemia Minor and Control Group

Thalassemias are heterogeneous group of inherited anemias caused by various mutations in the genes encoding the synthesis of α α α α α or β β β β β-chains of hemoglobin. It seems that there are some aspects in thalassemia that protect minor thalassemic patients from coronary heart disease. From those aspects we can count such as low serum lipoproteins, low arterial hypertension, and anemia and so on. A cross sectional descriptive and analytical study was designed to compare some lab data of minor thalassemic students and others. So 570 preschool children (6-7 years of age) and 450 pre-college students (17-19 year of age) in 4 educational discrete of Shiraz (center of Fars province-Iran) were selected in a random cluster manner were tested for CBC and serum lipids (TG, cholesterol, LDL, HDL) and were screened for minor thalassemia by CBC and HbA 2 (by column chromatography). For definition of minor thalassemia as cut-off Point HbA 2 ≥ ≥ ≥ ≥ ≥ 3.5% was accepted. After selection of minor thalassemic patients, serum lipids (TG, cholesterol, HDL, LDL) for them and control group were checked. According to this study in preschool children there is no significant difference between minor thalassemic patients and control group. In pre-collage students TG in control group is lesser than minor beta thalassemic patients (P value=0.004); but total cholesterol and LDL in patients group is lesser than control group and difference is significant. Total cholesterol and LDL in pre-college beta thalassemia minor students are lesser than control group. But TG in control group is lesser than patients group. According to this study in preschool children there is no significant difference in serum lipids between minor thalassemic students and control group

Epidemiological study of the patients referred for thalassemia diagnosis using chorionic villous sampling (CVS) in Genetic Laboratory of Dastgheib Hospital, Shiraz, 2011

Objective: Pre-natal diagnosis is the most effected way to prevent genetic diseases in a society. The aim of this research was to show the prevention level of the birth of the children with major thalassemia disorder and the demographic condition of the people referring to the Shahid Dastgheib Genetic Center in Shiraz for the pre natal diagnosis. Materials and methods: The present research was a cross- sectional (descriptive, analytical) one. In this study, the amount of sampling was done by census in a way that all the case (372 cases) related to the year 2010. The questionnaire was prepared based on the information present in the files. In order to compare the quantitative and qualitative variables, two sample t - test and K sample t- test were used. Results: Out of 372 fetuses tested, 25.5% had major thalassemia, 48.7% minor thalassemia, 0.8% intermediate, 1.3% sickle cell, and 23.7% were healthy. All the cases diagnosed with thalassemia were introduced for abortion, and abortion was carried out. Major thalassemia was more prevalent in Lore tribes (32.9%), which was more in comparison to the members of others tribes. Conclusion: In order to prevent major thalassemia, it is important to identify the gene carriers and prevent their marriage. Nevertheless, in many places in the country, especially in the villages and rural areas, the couples do the experiment after they have already gotten emotionally involved and made the arrangements to get married; therefore they're unwilling to stop the marriage. As a result, post-nuptial CVS during pregnancy is crucial

Frequency of Factor V Leiden and Prothrombin Polymorphism in South of Iran

Normal hemostasis requires balanced regulation of prothromboticand antithrombotic factors. Inherited alteration of factor Vand prothrombin gene, the G20210A mutation, increases the resistanceof factor V to degradation and booster production ofprothrombin respectively. These alterations can increase hypercoagulabilityleading to thrombotic consequences. We aimed toassess the frequencies of these mutations in a group of the populationof southern Iran. In total, 198 healthy volunteers with theage range of 1-64 years were selected and screened for factor VLeiden and prothrombin mutations using polymerase chain reactionand restriction fragment length polymorphism techniques.The carrier frequencies for factor V Leiden and prothrombin mutationin the studied cohort were 4.1% and 3.07%, respectively.In the studied area, the allele frequency of factor V ishigher than the prothrombin G20210A mutation (0.0204 v0.0153). According to the data and Hardy-Weinberger equation,the total risk of thrombosis caused by homozygosity andheterozygosity of factor V Leiden, prothrombin G20210A mutationand compound heterozygosity of these mutations areabout 1 in 500 individuals

The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura

This report describes a novel mutation in the TSP1-6 domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura. See related perspective article on page 166