الفهرس 
DISORDERS AFFECTING HEMOGLOBIN
Types of Thalassemia and Molecular BasisOnly 14 pages are availabe for public view
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Abstract
Beta Thalassemia is a disorder of hemoglobin characterized by a quantitative defect in beta globin chain production, resulting in accumulation of unpaired alpha chains, leading to hemolytic anemia, ineffective erythropoiesis and iron overload. Iron overload is an important feature of beta thalassemia, as it mediates much of the morbidity and mortality of the disease. Deposition of iron in tissues causes many problems including liver cirrhosis, cardiac dysfunction mainly in the form of heart failure and arrhythmias, endocrinopathies due to deposition of iron in pituitary, thyroid, parathyroid glands, and other side effects.
Currently, iron overload is assessed with laboratory markers such as serum ferritin and imaging studies such as MRI T2* on the liver and the heart. While these studies are important in the assessment of iron overload, they are not without their drawbacks. While serum ferritin is very valuable in providing an idea about total iron overload and in following trends of body iron (ie decreasing or increasing iron burden), serum ferritin is not a specific marker and rises in many acute inflammatory conditions. In addition, at very high levels of iron overload, serum ferritin does not follow a linear relationship with iron overload and does not reflect body iron burden well. MRI T2* studies are currently used to assess iron overload in the liver and heart, but as MRI is not widely available and is a relatively expensive investigation, this poses limitations to its universal application in assessing iron overload in beta thalassemia patients worldwide.
Summary and Conclusion
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Hepcidin is a peptide hormone that serves as the master regulator of iron metabolism. Hepcidin works on ferroportin, the main iron exporter in cells, which allows for both absorption of iron in enterocytes from the intestines, as well as export of iron out of cells. Hepcidin works by causing internalization of ferroportin and degredation, resulting in decrease in iron absorption and transport. Hepcidin is currently being investigated for its potential role as a diagnostic tool or as a therapeutic target in many studies.
This study was designed as a case control study involving 30 patients and 10 control selected from Ain Shams University. The study was designed to assess the value of serum hepcidin levels as a marker of iron overload and to see how it compared to values of serum ferritin in the same patients along with MRI T2* on the liver and the heart. The study found that serum hepcidin is not a statistically significant marker of iron overload. However, the study found significant correlation between gender and hepcidin, blood transfusion frequency and hepcidin, and hepatitis C infection and hepcidin. Future studies may be needed to delineate these correlations more clearly and help elucidate more about hepcidin, its regulation, and its potential role as a diagnostic tool.