Thalassemia and Stem Cell Therapy

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Thalassemia and Stem Cell Therapy

Thalassemia is a genetic blood disorder that is characterized by a low production of hemoglobin and red blood cells. It also can be defined as a blood disorder that causes the body to produce abnormal hemoglobins. Hemoglobin is a constituent of the red blood cell that helps it to transfer oxygen. The reduced amount of hemoglobin would lead to a low amount of oxygen available for the body.  The symptoms of anemia depend on the type of thalassemia involved. The severity of the symptoms usually varies from no symptoms to severe symptoms. Patients usually present with fatigue, skin pallor. In addition, people affected with the disease might also experience problems such as splenomegaly, dark urine, and reduced growth in children. Thalassemia is usually inherited from one’s parents. This blood disorder can be classified into two. These are the alpha thalassemia, and the beta thalassemia. The intensity of the symptoms largely depends on the number of the four genes that are deleted out of the alpha and beta genes. This disease can be diagnosed by performing a complete blood count test on the patient. Also, genetic tests can also be performed to ascertain the kind of defect the patient is suffering from. Treatment procedures for this disease depend on how severe it is. As an illustration, blood transfusions can be performed, and medications can also be administered. In addition, the spleen may have to be removed if it gets too enlarged. Stem cell therapy is the potential cure for this disease. The New York stem cell treatment center in Long Island offers the New York stem cell therapy. Hematopoietic stem cell transplantation is usually done, especially in severe cases of thalassemia.

What Are The Signs And Symptoms Of Thalassemia?

The signs and symptoms of thalassemia depend on the type the patient has, and also on the severity. Below are some of the symptoms of this disease;

  1. Iron accumulation: People affected by thalassemia often have an overload of iron in their bodies. This is usually due to the disease. An excess amount of iron in the body can damage the internal organs. Some of the organs that can be damaged by an excess body iron are the heart, liver and the endocrine system organs. Almost all patients suffering from thalassemia suffer from a dangerous accumulation of iron in the body.
  2. Infection: The people affected by thalassemia have a higher risk of getting infected with diseases. This is more prominent in patients that have their spleen removed. Spleens are usually removed due to splenomegaly.
  3. Bone defects: Thalassemia usually leads to the expansion of the bone marrow. This causes to bones to expand, giving the bones an irregular structure. This is predominant in the face. It also makes the bone weak, thin, and prone to fracture.
  4. 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.
  5. Reduced growth: Anemia in children can reduce their growth rate. It also alters their body physiology. For example, it might take longer for them to attain puberty.
  6. Cardiovascular diseases: There are some heart diseases that are associated with thalassemia. Some of the diseases are congestive heart failure and arrhythmia.

What Are The Causes Of Thalassemia?

Thalassemia is a genetic disease. It’s an autosomal recessive disease. It’s caused by an alteration in the DNA of cells that produce hemoglobin. Hemoglobin is the component of the red blood cell that carries oxygen. A reduction in the amount of hemoglobin in the blood would lead to a corresponding reduction in the oxygen available for the body. This disease alters the production of hemoglobin, and also the number of red blood cells. This eventually leads to anemia, making the patient tired and constantly fatigued.

What Are The Types Of Thalassemia?

The type of thalassemia a patient has depends on the kind of mutation the individual got from his parents. The severity of the mutation is directly connected to the symptoms the patient would present with. Below are some of the types of thalassemia;

  1. Alpha thalassemia

There are four genes in the make-up of the alpha hemoglobin chain. Usually, two are gotten from the father, while the remaining two are gotten from the mother.

  1. 1 mutated gene: This is when a patient has only one mutated gene. Patients usually do not present with any symptom. However, the patient can pass this on to his children.
  2. 2 mutated genes: this occurs when a patient has 2 mutated genes. The signs and symptoms of this type of thalassemia are mostly mild.
  3. 3 mutated genes: the signs and symptoms of this disease are usually moderate.
  4. 4 mutated genes: this is usually not common. However, fetuses that have this kind of thalassemia are usually not born. They mostly are stillborn or die within a short period of time after birth. Although, in cases where the baby doesn’t die shortly after birth, he might need a life-long transfusion therapy. Stem cell treatment can also be administered to this kind of patient.

Thalassemia minor

The beta hemoglobin chain has just two genes. People get one from each parent.

  1. 1 mutated gene: patients with this kind of disorder have mild signs and symptoms
  2. 2 mutated genes: the signs and symptoms of this disease vary from moderate to severe. Patients with this disorder are usually healthy after birth but start presenting with symptoms after about 6 months.

How Is Thalassemia Treated?

This depends on the severity of the disease. The severe form of this blood disorder usually requires a blood transfusion. In addition, the spleen can be removed, and also the blood iron levels corrected. Drugs usually prescribed for this include deferasirox

Stem Cell Therapy Of Thalassemia

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.

References

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.

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