Ithanet.eu Website Review

Welcome into the ithanet portal site for haemoglobinopathies a growing resource for clinicians and investigators working with haemoglobinopathies incorporating information on news, events, publicationsand clinical trials and haemoglobinopathy-related businesses and pros and, most importantly, databases of variations, epidemiology and hplc an*lytical reports. Read more haemoglobinopathies are caused by mutations at both globin gene clusters and are characterised by a diminished or absent synthesis of globin chains at the case of these thalas*aemia syndromes, chiefly α- and β-thalas*aemia, or by flaws in the haemoglobin protein arrangement at the case of structural haemoglobin variations, like the hb s that triggers sickle-cell disease. Haemoglobinopathies will be the most frequent monogenic disorders in the world and so are prevalent in preceding malaria areas in the mediterranean, the middle-east, south-east α-thalas*aemia is characterised by a reduction or complete lack of expression out of a number of those four α-globin genes and might be caused by a deletion or even a nondeletion mutation from the α-globin genes. Β-thalas*aemia is characterised by the reduced synthesis (β+) or lack (β0) of the β-globin chains at the hb molecule, leading to accu*ulation of unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and at the older erythrocytes, leading sickle cell disease is caused by one particular mutation within the hbb receptor, generating an abnormal variation of β-globin known as haemoglobin s (hbs) that can distort red blood cells into a sickle shape. The sickle-shaped red blood cells die prema*urely, which can result in anemia. On occasion the rigid, sickle-shaped cells get stuck in small arteries and can result in serious health complications. Incidence of β-thalas*aemia carriers: 3.5 percent of the population. Incidence of sickle cell disorder carriers: 2 percent of the population. Incidence of α-thalas*aemia carriers: 1 percent of the population