Evaluation the frequency of factor V leiden mutation in pregnant women with preeclampsia syndrome in an Iranian population

Role of genetic factors in etiology of preeclampsia is not confirmed yet. Gene defect frequency varies in different geographic areas as well as ethnic groups. In this study, the role of factor V Leiden mutation in the pathogenesis of preeclamsia syndrome among the pregnant population of northern shore of Persian Gulf in Iran, were considered. Between Jan. 2008 and Dec. 2009, in a nested case control study, pregnant women with preeclamsia [N=198] as cases and healthy [N=201] as controls were enrolled in the study. DNA were extracted from 10 CC peripheral blood and analyzed for presence of factor V Leiden mutation in these subjects. The maternal and neonatal outcomes of pregnancy according to the distribution of factor V Leiden were also compared among cases. In total, 17[8.6%] of cases and 2 [1%] of controls showed the factor V Leiden mutation. The incidence of factor V Leiden was typically higher in preeclamsia women than control group [OR: 9.34%95 CI: 21.12-41.01]. There was no difference in incidence rate of preterm delivery <37 weeks [OR: 1.23%95 CI: 0.38-4.02], very early preterm delivery <32 weeks [OR: 1.00%95 CI: 0.12-8.46], intra uterine fetal growth restriction [IUGR] [OR: 1.32%95 CI: 0.15-1130], and the rate of cesarean section [OR: 0.88%95 CI: 0.29-2.62] among cases based on the prevalence of factor V Leiden mutation. The pregnant women with factor V Leiden mutation are prone for preeclampsia syndrome during pregnancy, but this risk factor was not correlated to pregnancy complications in the studied women

Non-hodgkin lymphoma in a childe with schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterizedsteroid-resistant nephritic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. Mutations in SWI/SNF2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 [SMARCAL1] gene are responsible for the disease. The present report describes, for the first time, a Schimke immuno-osseous dysplasia child with SMARCAL1 missense mutation [R561H] and manifestations of intussusception secondary to Epstein-Barr virus-negative non-Hodgkin lymphoma, who expired due to septicemia following chemotherapy. The report emphasizes the necessity of more limited immunosuppressive protocols in Schimke immuno-osseous dysplasia patients with lymphoproliferative disorders

[Hb Dhonburi [Neapolis] [beta126[H4] Val-Gly] identified in a family from northern Iran]

Thalassemias are the most common hereditary disease in Iran, resulting from defects in synthesis of one or more hemoglobin [Hb] subunits. The majority of patients suffer from beta-thalassemia [thal], but cases with microcytic hypochromic anemia and normal electrophoretic patterns are suspected to have alpha or silent beta-thalassemia. A family from the northern part of Iran, an area where thalassemias, are highly prevalent was referred to us for prenatal diagnosis. The hematological data of the father indicated a pattern of beta-thal minor. Reverse hybridization analysis for the most common beta-globin mutations identified IVS-II-1 [G-A] in the heterozygous state. The maternal laboratory data indicated a case more compatible with alpha-thal. Iron deficient anemia was ruled out, and common alpha-thal point mutations and deletions were investigated. As no mutation was detected, globin chain synthesis was performed and showed an alpha/beta chain ratio of 2.1, that was in the range of beta-thal minor. DNA sequencing of the entire beta-globin gene identified a heterozygous GTG-GGG [Val-Gly] mutation at codon 126, also known as Hb Dhonburi [Neapolis]. Prenatal diagnosis of the fetal DNA showed the absence of the IVS-II-1 and codon 126 anomalies. This result demonstrates the importance of screening of individuals with mild microcytic hypochromic anemia for both alpha- and silent beta-thal mutations