Hemoglobinopathies are a group of hereditary hemolytic anemia characterized by qualitative (sickle cell disease) or quantitative (thalassemia) defects in the alpha or beta-globin chain synthesis. Homozygotes or compound heterozygotes for the mutated alpha or beta-globin genes can cause severe anemia at an early age. These pathologies are common in some areas (Mediterranean, Africa, India, and S...

The last decade a couple of observations melanistic greater flamingos have been reported across Southern Mediterranean region. In October 2014 flamingo was observed and photographed for the first time in Europe Lake Kerkini National Park Northern Greece. All decade’s could concern same individual if we considered that melanism is an extremely rare genetic mutation are moving different lakes aro...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of . Therefore in the present stu...

Results Of the 37 patients 19(52.8%) are females, 18(47.2%)are males and the age ranged from 2 to16. A positive family history of FMF was noted in 5(13.5%).Two patient has developed amyloidosis(mutationM694V/M694V). 27 of the patients had mutation M694V/M694V. 3 had mutation M680i/M694V. Another had M680I/M964V, M6801c/R761H, M680I/V726A, E148Q/M694V,M964V/ WT. We have not colchicines resistant...

To substantiate this hypothesis we compared the diseaseseverity in Turkish FMF patients living in Turkey and Germany, based on a modified score for children. A total of 53 Turkish children living in Turkey were compared to 45 Turkish children born and raised in Germany. Mean age among the group from Turkey and Germany was 42.2 (range 2–120 months) and 44.29 (range 3–178 months) months, respecti...

familial mediterranean fever (fmf) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the mediterranean sea. it is characterized by recurrent episodes of fever and polyserositis and rash. recently, mefv gene analysis determines the definitive diagnosis of fmf. in this study, we analyzed 12 mefv gene mutations in more than 200 fmf patients, pr...

Introduction In recent years, responsible genes for autoinflammatory diseases have been increasingly known and clinical phenotype-genotype correlations of these diseases have been explored through international clinical databases such as EUROFEVER project. However, clinical features of genetic disorders could be affected by countries and races of the patients. Actually, patients with Familial M...

Patients with Familial Mediterranean Fever by LightCycler Real-Time PCR, Elena Rossou, Anastasia Kouvatsi, Charalampos Aslanidis, and Constantinos Deltas ( Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus; 2 Department of Molecular Genetics C’, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus; 3 School of Biology, Aristotle University of Thessaloniki, Thes...

Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.