What is Thalassemia ?

Thalassemia is a genetic blood disorder, where the genetic defect results in reduced rate of synthesis of components of haemoglobin in red blood cells. Abnormal haemoglobin molecules often cause anaemia, a common presenting symptom of Thalassemia patients. There are two main types of Thalassemia, major and minor, where Thalassemia major is the most serious and requires the most intensive and costly treatment.

  Thalassemia is inherited from both parents who are carriers of the disease and have Thalassemia-Minor or asymptomatic. There will be a 25% chance that the child will have Thalassemia-Major if both parents are carriers, and a 50% chance to have the same Thalassemia-Minor as shown on the figure to the right.

Thalassemia is a painful genetic blood condition that causes the weakening and destruction of red blood cells. Thalassemia is caused by missing genes that affect how the body makes haemoglobin, the protein in red blood cells that carries oxygen to various parts of the body. People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal, which results in mild or severe anemia. There are three major types of thalassemia that are classified based on the severity of symptoms: minor, intermediate and major. People with thalassemia minor do not experience symptoms or require treatment but the trait can be passed on to their children. If the other parent also carries the trait, the child could develop thalassemia minor by inheriting a trait from one parent, or a more severe form of the disease by inheriting the gene from both parents. People with thalassemia intermedia need some follow-up care and may require blood transfusions under certain circumstances. Those with thalassemia major however need ongoing medical care, including blood transfusions to alleviate severe anemia and therapy to remove excess iron from the blood. Blood transfusions help to correct anemia and make sure that patient’s tissues get a normal amount of oxygen. This allows thalassemics to live and grow normally. The transfusions also let the bone marrow rest, so that their bones can develop normally and they also slow down or prevent any increase in the size of the spleen





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