The importance of studying inherited hematological disorders in ancient Anatolian populations

Before analysis of DNA from ancient remains was possible, anthropologists studied evolution and migration patterns using data obtained from population genetic studies on modern populations combined with data obtained from morphological evaluations of ancient remains. Currently, DNA analysis of ancient populations is making a valuable contribution to these efforts. Researchers that perform ancient DNA analysis prefer to study polymorphisms on the Y chromosome or mitochondrial DNA because the results are easier to statistically evaluate. To evaluate polymorphisms on diploid genomes, which are more informative, only mutations that have been extensively examined in modern populations should be chosen. The most extensively evaluated mutations are those related to prevalent inherited disorders. As such, beta-thalassemia, sickle cell anemia, FVL mutation of globin and the factor V genes are good candidates for DNA studies in ancient populations. These mutations are common in Anatolia, host to many civilizations since the Paleolithic period. This history makes Anatolia a good place for conducting research that could enhance our understanding of human evolution and migration patterns

Case Report: A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia

Macrothrombocytopenia is a congenital autosomal dominant blood disorder characterized by increased platelet size and decreased number of circulating platelets (Althaus and Greinacher, 2009). Here, we report a 32 year old beta thalassemia major patient admitted to the hospital for the evaluation of low thrombocyte count. In this study, we aimed to analyze mutations in MYH9 gene in our patient, we found a T to G nucleotide change at 3814 in exon 25, resulting in a transition of Serine to Alanine (p.S1195A) in MYH9 gene (Fig. 1) This mutation is reported for the first time in our population and not defined at Human Gene Mutation Database (HGMD) previously.Keywords: Thrombocytopenia Beta thalassemia MYH9 gen

Diamond-Gardner Syndrome: Autoerythrocyte Sensitization Syndrome

Diamond-Gardner syndrome (DGS) is an autoimmune disease characterized by painful ecchymoses that develop following emotional stress or trauma. The lesions are observed mostly in the extremities and these lesions are the result of autosensitization to extravasated erythrocytes after trauma. The majority of the patients diagnosed with this disease are composed of young women. In this case report, a teenager who had complaints of recurring painful ecchymoses with no related personal or familial background and later-diagnosed with DGS is presented. Although it is seen less commonly, DGS should be considered in the differential diagnosis of cutaneous lesions and haemorrhages of the childhood period, especially in adolescence

Protein Z G79A polymorphism in patients with severe sepsis

The aim of the study is to investigate whether the presence of a protein Z polymorphism is a risk factor for the development and outcome of sepsis. Sepsis is a clinical syndrome characterized by the presence of systemic signs and symptoms of inflammation. When sepsis leads to organ failure, the term severe sepsis and septic shock is used. The genetic causes of severe sepsis are not fully explained. Protein Z is a vitamin K– dependent glycoprotein and a member of the coagulation cascade. The study included 53 patients with severe sepsis and 70 control healthy volunteers without a familial history of thrombosis. The G79A polymorphism of intron F of the protein Z gene was analyzed by the method of polymerase chain reaction–based DNA analysis. The protein Z intron F G79A polymorphism frequencies of the patients and controls were 43.4% and 40%, respectively. Carrying 79 AA genotype could be a risk factor for severe sepsis and septic shock (OR ¼ 4.5, 95% CI: 0.45-46.1), but it could not find any difference between survivor and nonsurvivor groups. They concluded that the frequency of intron F G79A polymorphism of protein Z gene was higher in patients than controls, and carrying 79 AA genotype could be a risk factor for severe sepsis and septic shock

Effects of Ankaferd Hemostat on Helicobacter pylori strains and antibiotic resistance

Background/aim: Ankaferd hemostat (ABS; Ankaferd blood stopper, Istanbul, Turkey) is a folkloric medicinal plant extract. The aim of this study was to determine the effect of Ankaferd hemostat (ABS) on the fate of Helicobacter pylori strains. The study also aims to determine alterations in the antimicrobial resistance of three different H. pylori strains in response to ABS exposure. Materials and methods: H. pylori Strain 1 was obtained from the culture collection ATCC 43504 and passaged three times for viability. Strain 2 was isolated from a gastric ulcer patient and Strain 3 was isolated from a gastritis patient. 1% of ABS was added to all of the strains and antimicrobial susceptibility was observed on 30 and 60 min after application. Results: The efficacy of ABS solutions in achieving significant logarithmic reduction in foodborne pathogens of H. pylori was observed in this study. This study showed that ABS has antibacterial (Anti-H. pylori) effects. Conclusion: Our present study indicated, for the first time, that ABS could act against H. pylori. ABS is clinically used for the management of GI bleeding due to benign and malignant GI lesions. Thus, the possible anti-H. pylori effect of ABS shall expand the therapeutic spectrum of the drug in GI lesions in relation to H. pylori infection such as peptic ulser disease (PUD) and lymphoid tissue ( MALT) lymphomagenesis

Screening of polymorphisms in the folate pathway in Turkish pediatric Acute Lymphoblastic Leukemia patients

Background and aim: Folate metabolic pathway plays a significant role in leukemogenesis because of its necessity for nucleotide synthesis and DNA methylation. Folate deficiency causes DNA damage. Thus polymorphisms of folate-related genes may affect the susceptibility to childhood Acute Lymphoblastic Leukemia (ALL). MTHFR (Methylenetetrahydrofolate Reductase), DHFR (Dihydrofolate reductase), CBS (Cystathionine b-synthase) and TYMS (Thymidylate Synthase) have an important role in folate pathway because their activated variants modulate synthesis of DNA and levels of folate. In this study, we aimed to investigate whether polymorphisms in genes related to folate metabolic pathway influence the risk to childhood ALL.Subject and methods: The patient groups who were diagnosed with childhood ALL at Losante Pediatric Hematology-Oncology Hospital and healthy control groups were included in the study. MTHFR 677 CT, MTHFR 1298 A-C, CBS 844ins68, DHFR 19-bp and TYMS 1494del6 polymorphisms were screened. Genotyping of these polymorphisms was performed by Restriction Fragment Length Polymorphism (RFLP) analysis and Real Time Polymerase chain Reaction (Real Time-PCR).Results: In total, we have screened 5 polymorphisms in the studied genes. The results were compared between childhood ALL patients and healthy groups. Genotype frequencies of MTHFR 677 C-T, MTHFR 1298 A-C, CBS 844ins68 and DHFR 19-bp del were similar for childhood ALL patients and healthy groups. However, statistical results showed that TYMS 1494del6 may be associated with ALL pathogenesis (p < 0.001).Conclusion: We showed that TYMS polymorphism (rs2853542) may be associated with ALL pathogenesis. In addition, our results demonstrated that MTHFR, DHFR and CBS do not affect development of leukemia. Our study displays also importance as it is the first screening results to identify association with the studied polymorphisms in Turkish patients with childhood ALL and determination of the frequency in Turkish population