Thalassemia

Thalassemia Treatment: Types, Causes, Symptoms, & Doctors in India

Thalassemia is the name of a group of a genetic blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen around the body. The disorder results in the body not producing enough hemoglobin and red blood cells making them dependent on life-long blood transfusions. 

Types of Thalassemia

To make hemoglobin, the body needs two proteins, Alpha and Beta. Thalassemia occurs when there is a defect in a gene that helps production of one of these proteins. 

There are two main types of Thalassemia: Alpha and Beta

Alpha Thalassemia occurs when a gene or genes related to the alpha globin are missing or changed, and Beta Thalassemia occurs when similar gene defects affect the production of the beta globin protein.

Both, Alpha and Beta Thalassemia include two forms: Thalassemia Major and Thalassemia Minor. 

Thalassaemia Major develops when the gene defect is inherited from both parents, and Thalassaemia Minor occurs when the faulty gene is inherited from only one parent. 

Thalassemia Major is a serious disorder, and patients need blood transfusions every 2-4 weeks to maintain hemoglobin levels. Due to regular transfusion, there is an overload of iron in the body and it not treated, it damages the liver, heart, and pancreas among other organs. If left untreated, Thalassaemia Major eventually leads to death. 

Since Thalassaemia is an inherited and possibly serious blood disorder, it is imperative that every couple should get a Thalassaemia screening done before marriage and before planning a baby. 

What causes Thalassemia?

Thalassemia is caused by faulty genes that affect the production of hemoglobin. A child can only be born with the condition if they inherit these faulty genes from both the parents. For example, if both parents have the faulty gene that causes beta thalassemia major, there’s a 25% chance of each child they have being born with the condition. 

Symptoms of Thalassemia?

The signs and symptoms of Thalassemia very depending on the type of Thalassemia. The symptoms, generally, do not show until the age of 6 months in most infants with Beta Thalassaemia and some types of Alpha Thalassemia.

The Common Signs and Symptoms include:

  • Jaundice and pale skin

  • Drowsiness and fatigue

  • Chest pain

  • Cold hands and feet

  • Shortness of breath

  • Leg cramps

  • Rapid heartbeat

  • Poor feeding

  • Delayed growth

  • Headaches

  • Greater susceptibility to infections. 

How is Thalassemia diagnosed?

Most children with moderate to severe Thalassemia show signs and symptoms within their first two years of life. If the doctor suspects a child has Thalassemia, he/she may confirm a diagnosis using blood tests that might reveal: 

  • A low level of red blood cells

  • Smaller than expected red blood cells

  • Pale red blood cells

  • Red blood cells that are varied in size and shape

  • Red blood cells with uneven hemoglobin distribution give the cells a bulls-eye appearance under the microscope. 

Blood tests may also be used to:

  • Measure the amount of iron in the child’s blood

  • Evaluate hemoglobin 

  • Perform DNA analysis to diagnose the condition or to determine if a person is carrying mutated hemoglobin genes. 

Prenatal Testing: 

Testing should be done before a baby is born to find out if he/ she has the condition and to determine how severe it may be. Tests used to diagnose Thalassaemia in fetuses include: 

  • Chronic Villus Sampling: This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation. 

  • Amniocentesis: This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus. 

How is Thalassemia treated?

Treatment for Thalassaemia depends on the type and the severity of the condition. 

Treatments for Mild Thalassemia: 

Signs and symptoms are usually mild with Thalassemia Minor and little if any, treatment is needed. Occasionally, the patient might need a blood transfusion, particularly after surgery, after having a baby or to help manage Thalassemia complications.

Treatment for Moderative to severe Thalassemia: 

Treatments for moderate to severe Thalassemia may include:

  • FREQUENT BLOOD TRANSFUSIONS: More-severe forms of Thalassemia often require frequent blood transfusions, possibly every few weeks. And, over time, blood transfusions cause a build-up of iron in the blood, which can damage the heart, liver and other organs. Medications would need to be taken to get rid of the extra iron. 

  • STEM CELL TRANSPLANT: Also called a bone marrow transplant, this may be an option in select cases including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload. 

Can Thalassemia be prevented?

Since Thalassaemia is already in the genes, it cannot be prevented. 

If one or both the parents have it and they want to have children, they should talk with a genetics counselor – an expert in health issues – who will explain the chances of having a child with Thalassaemia.

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