β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.

β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed.

MyD 88 Polymorphisms in Children Diagnosed with Sepsis.

Background: Myeloid differentiation primary response gene 88 (MyD 88) is an intracellular adapter protein that mediates the early immune response to pathogens. Toll-like receptors (except TLR-3) induce the immune response through a MyD 88-dependent signal pathway.

Aims: We aimed to investigate the MyD 88 polymorphisms that play important roles in the immune response in septic children and to evaluate whether or not they were risk factors in the development of sepsis.

Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.

To contribute to the creation of a mutation map of the region, we aimed to determine the mutation spectrum of thalassemias and abnormal hemoglobins (Hbs) in the Çukurova region and surrounding provinces. In this study, a total of 8135 samples from Adana, Hatay, Mersin, Konya and Kayseri provinces between 1993 and 2014 were analyzed. Complete blood cell (CBC) counts and Hb typing were carried out using automatic cell counters, cellulose acetate membrane electrophoresis and high performance liquid chromatography (HPLC), respectively.

Detection of 1311 polymorphism in the glucose-6-phosphate dehydrogenase gene by microarray technique.

Introduction: Nucleotide 1311 polymorphism at exon 11 of the glucose-6-phosphate dehydrogenase (G6PD) gene is fairly common in various populations worldwide, especially among Mediterranean populations. In this study, 1311 polymorphism in G6PD-deficient cases was identified by microarray technique.

Material And Methods: Four hundred and fifty clinically healthy subjects were screened and 32 cases were found to have G6PD deficiency (7.

Vitamin D ameliorates stress ligand expression elicited by free fatty acids in the hepatic stellate cell line LX-2.

Background/aims: Hepatic stellate cells play an important role as the major source of fibrillar and non-fibrillar matrix proteins in the process of liver fibrosis. Natural killer cells have an anti-fibrotic effect through the killing of activated hepatic stellate cells. Major histocompatibility complex class I-related molecules, MICA and MICB, function as ligands for the NKG2D receptor and play an important role in hepatic stellate cells susceptibility to natural killer cells during hepatic inflammation.

Effect of oxidative stress on membrane proteins in thalassemia and iron deficiency anemia.

Objective: To evaluate the effect of oxidative stress on membrane proteins according to relationship between malondialdehyde (MDA) levels and membrane protein ratios in different two patient groups.

Methods: Fifty-seven healthy control cases that had no symptoms of inherited blood diseases, 50 diagnosed β-thalassemic patients, and 30 patients with iron deficiency anemia were enrolled. Erythrocyte membrane samples were prepared according to Dodge method and proteins were separated using 8.

Glucose-6-phosphate dehydrogenase activity, structure, molecular characteristics and role in neonatal hyperbilirubinemia in cord blood in Cukurova region.

The most common causes of neonatal indirect hyperbilirubinemia are blood incompatibility and erythrocyte enzyme defects. Glucose-6-phosphate dehydrogenase (G6PD) is a guarantee of erythrocyte stability and capability of existence of red cells. We present here the results of a study on the effect of enzyme kinetics and different mutations on neonatal hyperbilirubinemia in the Cukurova region.

Prenatal diagnosis of sickle cell anemia and beta-thalassemia in southern Turkey.

Hemoglobinopathies are the most common genetic diseases in Turkey. The incidence of sickle cell trait is 10.0% and beta-thalassemia (beta-thal) trait is 3.

Beta globin gene cluster haplotypes of abnormal hemoglobins observed in Turkey.

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey.

Allele frequency distributions of Apo B VNTR locus in Cukurova, Turkey.

The highly polymorphic minisatellites contain a variable number of tandemly repeated (VNTR) DNA sequences. They are extremely useful and informative markers to study genetic variation among human populations. We have analysed the allele frequency distribution at the highly polymorphic apolipoprotein B (Apo B) VNTR locus in order to obtain the population data for the Cukurova region in Turkey by using the polymerase chain reaction and polyacrylamide gel electrophoresis.

Prenatal diagnosis of sickle cell anemia in twin pregnancies and identification by VNTRs.

Background: Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis that is characterized by life-long severe hemolytic anemia, attacks of pain crisis, and chronic organ system damage. In this study, prenatal diagnosis was performed to three couples (families A, B, and C) with twin pregnancies who were at risk for SCA.

Methods: The SCA carrier state of the couples were confirmed at molecular level.

An Education Programme on Sickle Cell Anemia and ß-Thalassemia for the 8th Grade Students.

ß-thalassemia and sickle cell anemia (SCA) are major health problems in Çukurova. Screening studies have been carried on in this region for many years. The government started premarital screening programme and prenatal diagnosis has been done in Çukurova University Medical Faculty since 1992.