Haemoglobin is an essential element that is found in red blood cells. It plays the vital function of transporting oxygen through the cells to the body. Thalassemia involves decreased and defective production of haemoglobin or red blood cells (in which case it takes the form of anaemia). Another form of Thalassemia includes the destruction of red blood cells; a condition known as microcytosis. In its mildest form, Thalassemia results in anaemia, while the severest form of Thalassemia could require a lifetime of regular blood transfusion.

Thalassemia occurs when there are variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to other parts of the body. People who have thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe anemia.

Causes of Thalassemia: Understanding Inheritance
There are many possible combinations of variant genes that cause the various types of thalassemia. Thalassemia is always inherited (passed from parents to children). People with moderate to severe forms received variant genes from both parents. People with thalassemia trait (carriers) received variant genes from one parent and normal genes from the other parent. Although carriers often have no signs of illness other than mild anemia, they can pass the variant genes on to their children.

Causes of Thalassemia: Understanding Hemoglobin
Hemoglobin includes two kinds of protein chains called alpha-globin chains and beta-globin chains. Alpha thalassemia occurs when there is a problem with the alpha-globin part of hemoglobin. Beta thalassemia occurs when there is a problem with the beta-globin part of hemoglobin. There are both mild and severe forms of alpha and beta thalassemia. Severe beta thalassemia is often called Cooley's anemia.

Genetic Mutations
Four genes (two from each parent) are vital for normal levels of alpha-globulin, and two genes (one from each parent) are vital for normal levels of beta-globulin. Any mutation in a globular subunit gene can alter the protein's structure and function. The two categories of thalassemia are alpha-thalassemia and beta-thalassemia, described by the globulin chain that is underproduced because of the mutation. Normally, when the metalloprotein folds into its unique shape, each alpha subunit pairs with a beta subunit. In thalassemia, the excess of normally produced component accumulates and destroys the red blood cell. The severity of the disease depends on the number of genes that are mutated.

Alpha-Thalassemia
The mildest form of alpha-thalassemia, with one mutated alpha-globulin gene, is asymptomatic, but the individual can pass the mutated gene to offspring. A milder form, with two mutated genes, can be asymptomatic or cause mild anemia. At the other end of the spectrum, three mutated alpha-globulin genes result in severe anemia, called hemoglobin H disease. Four mutated alpha-globulin genes cause alpha-thalassemia major. Also called hydrops fetalis, this usually causes fetal death or death shortly after birth.

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Beta-Thalassemia
When one beta-globulin gene is mutated, beta-thalassemia is usually asymptomatic. Two mutated beta-globulin genes can cause either thalassemia intermedia or thalassemia major, requiring blood transfusions and iron-chelation therapy. Thalassemia major can be life-threatening.

Home Remedies for Thalassemia


Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other supplements that contain iron.

Eat a healthy diet. Eating a balanced diet that contains plenty of nutritious foods can help you feel better and boost your energy. Your doctor may also recommend you take a folic acid supplement to help your body make new red blood cells. Also, to keep your bones healthy, make sure your diet contains adequate calcium and vitamin D. Ask your doctor what the right amounts are for you, and whether you need to take a supplement.

Avoid infections. Protect yourself from infections with frequent hand-washing and by avoiding sick people. This is especially important if you've had to have your spleen removed. You'll also need an annual flu shot, as well as the meningitis, pneumococcal and hepatitis B vaccines to prevent infections. If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.

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