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Your Easy Guide to Understanding Beta Thalassemia

By Edited May 29, 2015 1 0

Blood Cells

Beta Thalassemia is a group of inherited disorders in the blood as a result of the absence or reduction of the beta chain of haemoglobin and as a consequence, the individual suffers from severe anemia to becoming a carrier of the disease. In simple terms, it is mutation in the beta globin (HBB) aspect of the gene and blockage of HBB, which reduces the body’s ability to produce beta chains which affects production of red blood cells. According to studies, this kind of blood condition affects one individual per every one hundred thousand human beings.

You might have this disease without even knowing it; many doctors don’t pick up this disease if they aren’t testing specifically for it. Get tested, be aware and stay healthy.

Different Forms of Beta Thalassemia

There are three different forms known to man at present.

  1. Beta thalassemia trait or minor occurs when one of the beta globin genes undergoes mutation. Individuals with this condition only have minor symptoms to deal with and doesn’t need any treatment, but they can pass this condition to their children. The most common of symptoms are anemia and lower red blood cells count compared with the normal count.
  2. Cooley’s anemia or beta thalassemia major occurs when both genes of beta globin are mutated. Infants carrying this disease look normal when they are born but after two years, symptoms will start to develop like severe anemia that requires periodic blood transfusions as disease treatment. Life span not more than 21. 
  3. Beta thalassemia intermedia occurs when both beta globin genes are mutated but the mutation is not so severe compared with beta thalassemia major. People carrying this blood condition may suffer moderately from severe anemia and may still require frequent blood transfusions but less than those suffering from Cooley’s anemia.  
Thalassemia
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How Individuals Acquire Beta Thalassemia

This blood condition is not acquired externally but is inherited from either parent.  Generally, it is a genetic trait like eye or hair color and doesn’t cause health issues and medical conditions.  There is a fifty percent level of probability that the trait is inherited if one parent has the beta thalassemia trait and the other has normal levels of haemoglobin or fifty per cent chance of not inheriting it. The disease aspect appears when a parent who has beta thalassemia passes the trait on to their children. 

Most Common Signs and Symptoms

How do you know that the person or the child has this health condition? Signs and symptoms of beta thalassemia can be mild, moderate, and severe. Mild symptoms include mild anemia and can only be diagnosed with a blood examination. Thus, it is quite common for some people to be a silent carrier of this disease. Moderate symptoms are mild anemia from childhood and throughout adolescent stage. Like mild symptoms, individuals do not know since there are no physical symptoms. Severe symptoms usually manifest after two years since birth and these are; frequent tiredness and fatigue, protruding abdomen, dark urine, abnormal facial bone structure and stunted growth, and poor appetite.

Treatment for Beta Thalassemia

The treatment of this inherited condition depends on the severity of the case. For those suffering with beta thalassemia minor, there is no required treatment. But for those with severe symptoms, treatment includes blood transfusion and chelation to remove overload of iron due to frequent transfusion of blood. Stem cell transplants are regulated and used only among selected patients.  

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