Thalassemia

What is thalassemia?

Thalassemia is a hereditary blood illness in which the body produces an aberrant kind of haemoglobin or insufficient amounts of haemoglobin. Hemoglobin is the oxygen-carrying protein in red blood cells. Anemia is caused by the condition, which causes a large number of red blood cells to be destroyed.

Thalassemia is a genetic blood condition in which your body produces much less haemoglobin than it should. Hemoglobin is a protein that allows red blood cells to transport oxygen. Thalassemia can induce anaemia, which might make you tired.

If your thalassemia is minor, you may not need therapy. However, more severe cases may necessitate regular blood transfusions. You can cope with weariness by eating a balanced diet and exercising on a regular basis.

Thalassemia is an inherited blood illness characterised by the production of an abnormal form of haemoglobin by the body. Hemoglobin is the oxygen-carrying protein molecule in red blood cells.

Anemia is caused by the disorder’s excessive breakdown of red blood cells. Anemia is a disorder in which your body lacks sufficient amounts of healthy red blood cells.

Thalassemia is a genetic condition that requires at least one of your parents to be a carrier. A hereditary mutation or the loss of specific critical gene segments causes it.

Thalassemia minor is a milder variant of the condition. There are two types of thalassemia that are more dangerous than the other. At least one of the alpha globin genes has a mutation or aberration in alpha thalassemia. The beta globin genes are compromised in beta thalassemia.

There are different subtypes of thalassemia in each of these kinds. The intensity of your symptoms and your prognosis will be influenced by the type you have.

Symptoms of thalassemia

The symptoms of thalassemia can vary. Some of the most common ones include:

bone deformities, especially in the face
dark urine
delayed growth and development
excessive tiredness and fatigue
yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.

Causes of thalassemia

Thalassemia is caused by a mutation or aberration in one of the genes responsible for haemoglobin synthesis. This genetic anomaly is passed down from your parents to you.

If only one of your parents is a thalassemia carrier, you may acquire thalassemia minor, which is a mild version of the disease. You won’t have any symptoms if this happens, but you will be a carrier. Mild symptoms do appear in some patients with thalassemia minor.

You have a higher probability of inheriting a more serious form of thalassemia if both of your parents are carriers.

People from Asia, the Middle East, Africa, and Mediterranean countries like Greece and Turkey are the most likely to have thalassemia.

Alpha-thalassemia

Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:

• One mutated gene, you’ll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
• Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.
• Three mutated genes, your signs and symptoms will be moderate to severe.

Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant.

Beta-thalassemia

Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:

• One mutated gene, you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.

• Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia.

  Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from two mutated genes.

Diagnosis of thalassemia

A blood sample will almost certainly be taken if your doctor is trying to diagnose thalassemia. This sample will be sent to a lab to be examined for anaemia and abnormal haemoglobin levels. A lab technician will examine the blood under a microscope to see if any of the red blood cells are abnormally shaped.

Thalassemia is characterised by abnormally formed red blood cells. Hemoglobin electrophoresis is another test that the lab technician may perform. This test isolates the various chemicals in red blood cells, allowing the aberrant type to be identified.

A physical examination may also aid your doctor in making a diagnosis, depending on the kind and severity of your thalassemia. A severely enlarged spleen, for example, could indicate haemoglobin H disease to your doctor.

Prenatal testing

Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it might be. Tests used to diagnose thalassemia in fetuses include:

• Chorionic villus sampling. Usually done around the 11th week of pregnancy, this test involves removing a tiny piece of the placenta for evaluation.
• Amniocentesis. Usually done around the 16th week of pregnancy, this test involves examining a sample of the fluid that surrounds the fetus.

Treatment of thalassemia

Mild forms of thalassemia trait don’t need treatment.

For moderate to severe thalassemia, treatments might include:

• Frequent blood transfusions. More severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks. Over time, blood transfusions cause a buildup of iron in your blood, which can damage your heart, liver and other organs.

• Chelation therapy. This is treatment to remove excess iron from your blood. Iron can build up as a result of regular transfusions. Some people with thalassemia who don’t have regular transfusions can also develop excess iron. Removing the excess iron is vital for your health.

  To help rid your body of the extra iron, you might need to take an oral medication, such as deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is given by needle.

• Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant might be an option in some cases. For children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

  This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling.