Beta thalassemia is a disorder of the blood. It’s a condition that causes a defect haemoglobin. It occurs as a result of the reduced or lack of synthesis of the beta chains of haemoglobin. Beta thalassemia is caused by mutations in the HBB gene on chromosome 11. The inability of the body to produce new beta-chains leads to the insufficient production of HbA. Patients usually present with microcytic anaemia. Patients do require a blood transfusion to survive. However, a frequent blood transfusion can lead to the accumulation and abnormal build-up of iron in the body. This might lead to a condition known as iron toxicity. This disease can lead to complications, such as heart failure, poor growth, skeletal deformities, especially during infancy and so on. Other complications associated with this disease include liver cirrhosis, liver fibrosis, and liver cancer in rare cases. Studies have shown that this disease is more prevalent in people from places such as Italy, Greece, Africa and so on. Children affected by this disease would require a lifelong blood transfusion, although this has some complications. Surgery can also be performed. Physicians do perform splenectomy in patients, to reduce hemolysis. Stem cell therapy is an important part of thalassemia therapy. This is most useful for children born with the severe form of thalassemia. Hematopoietic cell transplantation is the only procedure that has the potential to cure thalassemia. Thalassemia producing cells are removed from the body through a high amount of chemotherapy. After these defected red cells have been eliminated, healthy stem cells are introduced into the bone marrow. These cells replace the thalassemia producing cells and start producing normal red blood cells.
What Are The Signs And Symptoms Of Beta Thalassemia Major?
Patients that only carry the traits usually do not exhibit any symptoms. However, patients with beta-thalassemia major usually show signs of anaemia because haemoglobin synthesis is affected. Common signs and symptoms include:
- Paleness – This is due to the low number of red blood cells and haemoglobin in the blood. The body tissues don’t get the level of oxygen they need and patients end up looking pale and requiring blood transfusion multiple times.
- Shortness of breath or difficulty in breathing – Due to the low level of oxygen reaching the body tissues.
- Yellowing of the skin and the whites of the eyes – This is known as jaundice and is caused by an increase in a yellow substance in the body known as bilirubin. This substance is usually released when red blood cells break down and in beta-thalassemia major, red blood cells break down way more often because their haemoglobin is not well formed.
- Deformation of some bones – Red blood cells are formed in bone marrows. They are produced in large quantities in beta-thalassemia major because the body is trying to compensate for the low level of oxygen. They cause an expansion inside the bone and subsequent thinning of the outer part of the bone leading to a defect.
- Tiredness – Low haemoglobin leads to low oxygen which leads to the low functioning of the tissues and organs because they need oxygen to produce energy.
- Heart problems – Problems like Irregular heartbeats, the noticeable pounding of the heart, heart failure could develop as a result of the low level of oxygen supply to the heart muscles and overwork of the heart in a bid to compensate for it.
- Liver problems – Blood cells are also formed in the liver and it could become overworked and get really big. This is known as Hepatomegaly. Too much iron in the blood can also affect the liver.
- Gallbladder problems – Stones may form in the gallbladder due to a build-up of bilirubin.
- They are also prone to have lower levels of sex hormones, problems with the thyroid and parathyroid glands, diabetes, late puberty and reduced fertility.
- Splenomegaly: The spleen usually becomes big in patients suffering from thalassemia, because the spleen works in protecting the body from infections. It also works by filtering out the bad or defected red blood cells. However, there are a lot of bad cells in thalassemia patients, this makes the spleen overwork. The spleen tries to compensate by increasing in size. Physicians usually remove the spleen when they notice a severely enlarged spleen. However, this exposes the patient to infections.
TREATMENT
Majorly, treatment consists of :
- Long-term Blood transfusion – This might be needed at least once a month for patients with beta-thalassemia major and even though it is relatively a safe treatment, it can lead to accumulation of iron in the body.
- Removal of excess iron – After a couple of blood transfusions, the level of iron in the body significantly increases and there is a need to remove it or else it could damage some organs in the body. This process of removal is called iron chelation. Medications used for this include Deferoxamine, Deferasirox, Deferiprone.
- Removal of the spleen – The spleen is the organ involved in breaking down red blood cells. It might become overworked and get so big due to a large number of red blood cells. If this happens, it has to be taken out to avoid rupture (which is much more life-threatening and difficult to manage)
- Hormonal supplements – This may be needed to counteract the low levels of sex hormones, help to initiate puberty and fertility.
- Bisphosphonates – These are medications used to strengthen bones.
- Thyroid hormone replacements – If the thyroid gland becomes affected.
- Gallbladder removal surgery – If the gallbladder is affected.
- Other supportive treatments like antibiotics, vaccinations, pain medications may be required.
Stem cell Therapy
Stem cell therapy is an important part of thalassemia therapy. This is most useful for children born with the severe form of thalassemia. Hematopoietic cell transplantation is the only procedure that has the potential to cure thalassemia. Thalassemia producing cells are removed from the body through a high amount of chemotherapy. After these defected red cells have been eliminated, healthy stem cells are introduced into the bone marrow. These cells replace the thalassemia producing cells and start producing normal red blood cells.
References
Al-Wataify, A. (2013). efficacy and safety of deferasirox therapy on β-thalassemia major patients in Babylon thalassemia centre. Journal of Sulaimani Medical College, 3(2), pp.125-130.
Gaziev, J. and Lucarelli, G. (2011). Hematopoietic Stem Cell Transplantation for Thalassemia. Current Stem Cell Research & Therapy, 6(2), pp.162-169.
Giardina, P. (2012). Pain in thalassemia – an emerging complication. Thalassemia Reports, 1(2s).
Nadarajan, V. (2011). Modern management of thalassemia. ISBT Science Series, 6(2), pp.432-437.
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