Biography
Biography: Mert Ceyhan
Abstract
Sickle Cell Disease (SCD) is the most common monogenic disorder. SCD is an increasing global health problem and even accepted as public health issue in some regions. The prevalence of the disease is high in sub-Saharan Africa, the Mediterranean basin, the Middle East and India. Recurrent and unpredictable episodes of vaso-occlusion are the hallmark of sickle cell disease. Vaso-occlusion typically causes acute complications, including ischemic damage to tissues, resulting in severe pain or organ failure. Symptomatic management and prevention of these events is currently the mainstay of treatment. Discoveries over the past two decades have highlighted the important contributions of various participants in the occlusion cascade and there are new progresses in vaso-occlusion management. Cardiac amyloidosis is increasingly recognized due to enhanced clinical awareness and better diagnostic imaging like echocardiography, cardiac MRI and scintigraphy. Transthyretin cardiomyopathy is a form of transthyretin amyloidosis, a rare progressive disease characterized by the abnormal deposits of a protein called amyloid in the body’s organs and tissues. Transthyretin cardiomyopathy primarily affects the heart and is defined by restrictive cardiomyopathy and progressive heart failure. The prevalence of transthyretin cardiomyopathy is presently unknown, but it is estimated that less than 1% of people with the disease are diagnosed. The average life expectancy for people with transthyretin cardiomyopathy is 3 to 5 years from diagnosis. CA is becoming of heightened interest to the cardiology community given more effective treatment strategies. The commonest severe inherited bleeding disorder worldwide is hemophilia A, followed by hemophilia B. These are X-linked recessive disorders that result from mutations in the genes for blood clotting factor VIII (FVIII) in hemophilia A or factor IX (FIX) in hemophilia B. There is severe bleeding tendency with frequent spontaneous musculoskeletal and soft tissue bleedings. The life expectancy of a patient with severe hemophilia is about 10 years in the absence of replacement therapy. Since 1960s several progresses have been achieved in replacement therapies. Even there are widening therapeutic choices currently, gene therapy offers a strikingly attractive potential by means of the endogenous production of FVIII or FIX. The hemophilia patients were recognized as good candidates for gene therapy because all their clinical manifestations are due to lack of a single protein. Gene therapy provides hope for patients with hemophilia.