The Latest Updates in Thalassemia Disorder


Thalassemia are inherited blood disease characterized by abnormal haemoglobin production. Hemoglobin is the protein molecule in purple blood cells that carries oxygen.

The disorder result is excessive destruction of red blood cells, which lead to anemia. Anemia can result in feeling tired and pale skin. There may also be done problem, yellowish skin, dark urine, enlarged spleen, and among children slow growth.

Types of thalassemia:

There are two main types of thalassemia

  • Alpha
  • Beta

Alpha-globin Thalassemia:

In alpha thalassemia, the haemoglobin does not produce that much protein.

Alpha-globin are sub-divided into four types:

  • One faulty gene
  • Two faulty gene
  • Three faulty gene
  • Four faulty gene
One faulty gene:

You have no signs of thalassemia. But it will affect your childrens.

Two faulty gene:

Your thalassemia signs will be mild. This condition is called as alpha-thalassemia trait.

Three faulty gene:

Your signs will be moderate to severe.

Four faulty gene:

This type of signs is rare. Affected fetuses have extreme anemia and commonly are stillborn. Babies born with this situation often die shortly after birth or require lifelong transfusion therapy. In rare cases, a baby born with this situation may be handled with transfusions and a stem telephone transplant, which is also called a bone marrow transplant.

Beta Thalassemia:

We need two globin genes to make beta-globin chains, one from each parents. If one or both faulty, beta thalassemia will occur.

Severity depends on how many genes are mutated.

Beta-globin are sub-divided into two types :

  • One faulty gene
  • Two faulty gene
One faulty gene:

This is called beta thalassemia minor.

Two faulty genes:

There may be moderate or severe symptoms. This is known as thalassemia major. It used to be called Colley’s anemia.

Beta thalassemia is more common among people of Mediterranean ancestry. Prevalence is higher in North Africa, West Asia, and the Maldive Islands.

Symptoms for Thalassemia:

Thalassemia signs and symptoms may include:

  • Weakness
  • Fatigue
  • Pale or yellow skin
  • Slow growth
  • Dark urine
  • Abdominal swelling
  • Facial bone deformities
  • Chest pain
  • Cold hand and feet
  • Leg cramps
  • jaundice and pale skin
  • drowsiness and fatigue
  • dizziness and faintness
  • poor feeding
  • shortness of breath
  • rapid heart beat
  • delayed growth
  • headaches
  • greater susceptibility to infections

Several type of thalassemia exist, Such as thalassemia intermedia, Cooley anemia and alpha-thalassemia. Some children show signs and symptoms of thalassemia at birth, while others may also improve them during the first two years of life. Some humans who have only one affected hemoglobin gene don’t experience any thalassemia symptoms.

Treatment for Thalassemia:

The treatment for thalassemia based on the type and severity of disorder involved. People who have alpha or beta thalassemia trait have mild or no symptoms. They did not required treatment.

There are three common standard treatments for severity of thalassemia. They are:

  • Blood transfusions
  • Iron chelation therapy
  • Folic acid supplements

Blood Transfusions:

Blood transfusion is the main treatment for people who have severe or moderate thalassemia. This treatment gives the healthy blood.

During a treatment, a needle is used to insert a intravenous line into one of your blood vessels. This process will take 1 to 4 hours. After the treatment t you will receive the healthy blood.

Red blood cells lives up to 120days. So, you need to continue the transfusion every 2 month to maintain the healthy blood cells.

If you have beta thalassemia intermedia or haemoglobin H disease, you may need blood transfusion on occasion.

Iron Chelation Therapy:

Regular blood transfusion can lead to excess of iron in the blood. This process is called iron overloaded. It will damage the heart, liver and other parts of the body. The red blood cell involves haemoglobin is an iron-rich protein.

To recover this damage, doctors use the iron chelation therapy. It will remove the excess of iron from the body. Iron chelation therapy uses two medicines to cure the damages:

  • Deferoxamine
  • Deferasirox

Folic Acid Supplements:

Folic acid is vitamin B that will help you to built the healthy red blood cells. Doctor may recommend floic acid supplements in addition to treatment with iron chelation therapy and/ or blood transfusion.

Other Treatments:

Blood and Marrow Stem Cell Transplant:

The healthy stem cells comes from you is called an autologous transplant. The stem cells comes from the other person is called donor. It is also known as allogeneic transplant.  Bone marrow transplant commonly used for blood cancers or blood related disease that reduce the number of healthy blood cells in the body. These procedures is also used for other disease.

For allogeneic transplant, your doctor will find a donor related to your blood. Your doctor consider using the cells from your close family members, who have registered with the national marrow donor program and who are not  related to you or form publicly stored umbilical cord blood.

Bone marrow transplant are commonly performed in hospital. Generally, You need to stay in hospital for one to two weeks before the transplant to prepare. During the treatment, We will insert a narrow tube in one of your large vein. Doctor will give the sleep medicine while the processing.  And then you receive the special medicines to destroy the abnormal stem cells and to weaken your immune system so it won’t reject the donor cells after the transplant.

After the transplant, doctor will check the blood count every day to check the new blood cells have started to grow in your bone marrow.  You want to stay near the hospital or you must come and check the blood cells in hospital for week or months. Before you leave the hospital, doctor will give the detailed instruction that you must follow to cure the prevent infection. Doctor will monitoring you until you become healthy.


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