Thalassemia

Thalassemia is a disease that causes the reduction of haemoglobin which carries the oxygen in its red blood cells throughout the body. Due to this reduction of haemoglobin, the red blood cells are less available to carry oxygen to different parts of the body which in turn low down the functioning of the organ. For example, if oxygen is not reaching the liver, the organ will not function properly and raise liver-related diseases. A person having this disease cannot do his/her normal physical work like walking, physical exercises, running, and other muscle-related works.

Thalassemia can also cause patient anaemia which makes the patient fatigue. Though mild thalassemia does not need too much attention but does not allow the patient to do rigorous physical exercises. On the other hand, in the case of the severe stage of thalassemia, a patient might require regular blood transfusions to increase the red blood cell count.

Causes of Thalassemia

Thalassemia is a medical disorder in which the patient’s red blood cells do not produce as fast as in the normal person but deplete as fast as they produce. Thalassemia is due to the mutations in the DNA of cells that are responsible for the production of haemoglobin in the red blood cells which carry the oxygen. This is a genetic disorder disease and transfers from parents to their off-springs. There are signs of thalassemia including the feeling of tiredness and pale skin. There are alpha-thalassemia and beta-thalassemia. The mutations in the alpha and beta chain of the haemoglobin create these two types of thalassemia. The mutation affects the production of alpha and beta chains.

In the alpha-haemoglobin chain, there are four genes and they inherit from the parents equally means two genes from each parent. Out of these four genes, how many of them are mutated and given by parents decides the severity of the alpha-thalassemia. The mutation of genes decides the severity as follows:

1. If one gene is mutated, there will not be any signs of thalassemia but you will be the carrier of thalassemia to your off-springs.
2. If two genes are mutated, there will be mild thalassemia. And this is curable.
3. If three genes are mutated, there will be a mild to severe type of thalassemia which may or may not need a blood transfusion or stem cell transplants.

In the beta-haemoglobin chain, there are two genes and they inherit from the parents equally means one gene from each parent. Out of these two mutated genes, the patient gets one from each parent. The severity of beta-thalassemia depends on the mutation in the following way:

1. If one gene is mutated, there are signs of mild thalassemia and it is called minor beta-thalassemia.
2. If two genes are mutated, there will be major thalassemia. Its symptoms may be moderate to severe.

Symptoms of Thalassemia, Risks Involved and Complications

The symptoms of thalassemia do not appear in the early years but they start to appear after two years. The common symptoms are feeling weakness, fatigue, deformities in the facial bones, slow growth and pale or yellow skin, dark urine and abdominal swelling.

The risk involved in the case of thalassemia is the transfer of mutated genes to the patient’s children.

Complications also arise while treating the patient suffering from thalassemia disease. Following are some addressed complications:

1. Iron overload: When the patient is at a severe level of thalassemia, he/she is treated with blood transfusions. Due to this process, overload of iron also causes other complications like damage to the heart, liver and endocrine system. This also starts the hormonal imbalance which regulates all the processes of the body.
2. Enlargement of the spleen: Blood coming from the donor involves a large number of damaged red blood cells. These blood cells should be removed before utilization and here comes the importance of the spleen. The spleen helps to filter the damaged and unwanted blood cells and unwanted material. Because the donor’s blood has these damaged cells and unwanted material, the spleen has to clear this blood as well as the blood already in the body. This makes the spleen work hard than normal and due to this its size increases.
3. Abnormalities in functioning of the heart: The heart is damaged due to iron overload and that causes abnormal heartbeats and congestive heart failure.
4. Effect on growth rate: The disease delays or slows down the growth of the child and delays puberty.

Prevention and Treatment of Thalassemia

As thalassemia is a disease coming through parents, it cannot be prevented and healing is the only option to save the child suffering from this disease. So if a patient is having mutated genes or symptoms of thalassemia, it is advisable to consult with a specialist before deciding to plan for children. If this even happens and pregnancy occurs, there are some types of tests which are prenatal tests. In these tests, the blood of unborn babies is checked for this and other severe types of diseases and if found, parents are advised to do the abortion. Though there are treatments available for thalassemia, as per the studies, it has been observed that the lifespan of people suffering from this disease ranges from 25 to 30 years even with the treatments. In some cases, this range goes to 60 years only.

There are three treatments available for thalassemia, namely, blood transfusion, chelation therapy and stem cell transplant. Out of these treatments, though blood transfusion is common it involves the risk due to over deposit of iron which in turn affects the functioning of the heart, liver, other organs and hormonal system of the body.

FAQs on Osteoporosis

Q.1: What is thalassemia disease?

Answer: Thalassemia disease is a genetic disease that transfers from the parents to children. As this is a genetic disease, it is not detected within 2 years from birth. Once the child starts moving and running it effects then become visible. There are some symptoms like pale yellow skin, fatigue and tiredness. Due to this disease child does not take an active part in physical activities involving running, childhood fighting with siblings and other activities that demand too many movements of the body.

Q.2: How thalassemia can be treated? Please explain any two of them.

Answer: Currently, there are three methods available for the treatment of thalassemia. These are chelation therapy, stem cell transplant and blood transfusion.

1. Chelation therapy: This treatment involves the removal of excess iron from the blood deposited as a result of blood transfusion. In this treatment oral medications like deferasirox or deferiprone are given. Another drug that is given by needle is deferoxamine.
2. Stem cell transplant or Bone Marrow transplant: This treatment is given to patients suffering from severe thalassemia. Since this treatment is costly, it is preferable when the condition of the patient is not improving from other treatments. This involves the transplant of stem cells, obtained by compatible donors usually a sibling. After this treatment, there is no need for other treatments throughout life.

Q.3: Which food habits are preferable for the patient with thalassemia?

Answer: Along with the treatment, nutritional food is very important for patients suffering from thalassemia. In these patients, nutritional deficiencies may start other complications. If the patients are doing blood transfusions regularly, low iron diets are advisable. Some of these are green leafy vegetables, vitamin C rich foods, cereal, red meat, etc.