Doctors near me doing stem cell injectionsBeta thalassemia syndrome is a group of diseases that affect the production of hemoglobin and subsequently red blood cells in the body. Hemoglobin is a complex protein found in red blood cells. It contains iron and globin chains and is responsible for the distribution of oxygen all over the body.

Beta thalassemia consists of four types of diseases –

  • Beta thalassemia Major – this is when both parts of the genes are defective
  • Beta thalassemia Minor – when people carry the trait, i.e only one-half of their beta thalassemia genes are affected
  • Beta thalassemia Intermedia – when the disease severity is between beta-thalassemia major and minor. Different types of genes are associated with this
  • Hemoglobin (Hb) E disease – Defect in Hemoglobin E

There are hopes that doctors can buy stem cells online for the treatment of this disease in the future.

What Are The Causes Of Beta Thalassemia?

Thalassemia is due to a genetic defect in the formation of the beta globin chains. This defect is inherited from both parents who have to be carriers of the thalassemia trait. Genes come in pairs, so the parents of a child with thalassemia must have had a defect in at least one of the pairs of their thalassemia genes. These parents would not exhibit any symptoms because the other half of their gene is not faulty. However, a child inheriting the faulty half from each parent would have 2 faulty genes and will start to exhibit symptoms usually beginning from infancy.

Statistics have shown that people from certain race-related demographics are more likely to have this condition. This includes people from a Mediterranean background (including Malta, Cyprus, France, Spain, Greece, Italy, etc), the Middle East and Southeast Asian populations.

It is not contagious in any form and it is not caused by anything done before or during pregnancy.

What Are The Signs And Symptoms?

Patients that only carry the traits usually do not exhibit any symptoms. However, patients with beta-thalassemia major usually show signs of anemia because hemoglobin synthesis is affected. Common signs and symptoms include:

  • Paleness – This is due to the low number of red blood cells and hemoglobin 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 hemoglobin 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.


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 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 in 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.


Al-Wataify, A. (2013). efficacy and safety of deferasirox therapy on β-thalassemia major patients in babylon thalassemia center. 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.