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Thalassemia Treatment

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Thalassemia Treatment

A genetic hemo-disorder, Thalassemia is a situation in which a person is unable to make sufficient hemoglobin and this leads to anemia. An essential part of the blood, hemoglobin is built in red blood cells and is involved in supplying oxygen to all aspects of the body. A lack of hemoglobin leads to a lack of oxygen, which adversely affects the functioning of the organs.

Thalassemia is the most common and dangerous hemoglobinopathy caused by genetic mutations. It depends on the type of defect in the protein chains. Thalassemia has been categorized into two major parts. Alpha Thalassemia and Beta Thalassemia.

Symptoms

A newborn with beta-thalassemia and some type of alpha-thalassemia usually doesn’t show symptoms until 6 months old. This is because of the fetal hemoglobin in their blood. But after 6 months the fetal hemoglobin is restored to normal levels and the first symptoms may be visible. Thalassemia is naturally characterized by the following symptoms:

  • Paleness of the skin and jaundice.
  • Fatigue and weariness.
  • Pain in the chest and head.
  • Cold hands and feet.
  • Breathlessness.
  • Muscle cramps in the legs.
  • Fast-paced heartbeat.
  • Poor appetite.
  • Stagnant growth.
  • Poor immunity leads to infection.
  • Skeletal abnormalities may also occur when the body tries to produce more bone marrow.

Patients suffering from other forms of Thalassemia, Hemoglobin H are more likely to be vulnerable to gallstones and an enlarged spleen. If left untreated, Thalassemia leads to complications that can cause multiple organ failures.

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Treatment

The only effective treatment for Thalassemia is continuous blood transfusions. However, treatments can vary depending on the type and severity of Thalassemia.

Blood Transfusions – Thalassemia sufferers can live a normal life with regular blood transfusions, but medical science has yet to find a permanent cure. There is no doubt that blood transfusions can restore lower hemoglobin levels and raise the red blood cell count. Patients with critical conditions require about 8 to 12 blood transfusions per year. At the same time, patients with minor conditions may require up to eight transfusions per year.

Iron Chelation – Due to heavy blood transfusions, the risk of assembling huge deposits of iron in the bloodstream is unavoidable. Too much iron in the blood can harm the heart and also influence other essential organs negatively. Patients have been prescribed oral medicines such as deferoxamine intravenously or deferasirox. Taking folic acid supplements is recommended for patients who receive blood transfusions on a regular basis in order to prevent the development of red blood cells.

Bone Marrow Transplant – It is an effective treatment. Bone marrow transplants can be helpful in many cases. Bone marrow is essential for making red and white blood cells, hemoglobin, and blood platelets.

Surgical Procedure – A surgical procedure may be suggested if a bone deformity exists.

Gene Remedy – Scientists are working on developing a genetic cure for patients suffering from Thalassemia. Tentative possibilities include the insertion of a normal beta-globin gene into the bone marrow of the patient or the use of certain drugs to revive the genes that produce fetal hemoglobin that is present in the first 6 months of infancy.

You may be interested in: Signs and symptoms of Thalassemia

Diagnosis

Thalassemia in children may be diagnosed as early as 2 years of age. Patients with Thalassemia may not be diagnosed until they have a child who is suffering from Thalassemia. Only blood tests can determine whether a person has Thalassemia or not. The following tests can determine the highest levels of Thalassemia in a patient.

Complete Blood Count Check (CBC) – With a complete blood count, you can determine the hemoglobin level and the number of red blood cells.

Reticulocyte Count – This determines the pace at which red blood cells, or reticulocytes, are produced and released by the bone marrow. Reticulocytes usually take approximately 2 days to mature into red blood cells. Normally, 1 to 2 percent of RBCs are reticulocytes in a healthy person.

Iron Test – It is mainly done to check anemia. Thalassemia is not the cause of the iron deficiency.

Genetic Testing – Thalassemia can be checked through genetic testing. It will help the doctor identify whether it is Thalassemia or another genetic disorder.

Prenatal Testing – This test can detect thalassemia early in the fetus and its severity. This test has two additional forms:

Chorionic Villus Sampling (CVS) – Around the 11th week of pregnancy, a placenta is removed for testing.

Amniocentesis – In this procedure, a small sample of the amniotic fluid is taken for testing. Usually during the 16th week of pregnancy. Amniotic fluid is the fluid that surrounds the fetus.

Complications in Thalassemia

Thalassemia can carry some complications such as the following:

  • Iron Deposit Overload – As already discussed above large iron deposits can be the cause of recurring blood transfusions or the disease itself. Too much iron in the blood increases the risk of hepatitis, fibrosis, or cirrhosis of the liver. The pituitary gland may also be affected, leading to obstructed adolescence. Eventually, growth may slow down due to diabetes and an inactive or overactive thyroid gland. The risk of arrhythmias, abnormal heartbeat, and congestive heart failure can also not be diminished due to the high content of iron in the blood.
  • Alloimmunization – When a transfusion happens, it is extremely imperative that the exact blood type is infused into the patient’s body. This is because the immune system will not allow red blood cells to get absorbed into the body and will attempt to destroy them.
  • Enlargement of the Spleen – When you have thalassemia, the red blood cells will have an abnormal shape, and the spleen will not be able to recycle them. As a result, the cells collect in the spleen and grow there. An enlarged spleen is overactive. It starts damaging the healthy blood cells that the patient receives at the time of transfusions. In such cases, a patient may have to undergo a splenectomy, the surgical elimination of the spleen but it could cause other complications.
  • Infection – The removal of the spleen may cause certain infections and regular transfusions may cause certain bloodborne diseases.
  • Bone Deformities – In some cases as the bone marrow enlarges, the bone surrounding the marrow becomes irregular in shape. Bones become fragile and are prone to breaking easily.

 

Factors Affecting Cost of Treatment

The following are the basic factors that determine the cost included in treating thalassemia:

  • The hospital that the patient chooses for his or her treatment.
  • Fees for the doctor/physician.
  • Cost of medicines and injections.
  • Cost of tests and diagnostic procedures.
  • Cost of surgery (if required).
  • Cost of a prosthesis (if required).
  • Cost of follow-up care.
  • Cost of blood transfusions and other therapies.

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