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What Is Thalassaemia?

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

What Are The Types Of Thalassaemia?

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

There are two main types of Thalassaemia: Alpha and Beta.
Alpha Thalassaemia occurs when a gene or genes related to the alpha globin are missing or changed, and Beta Thalassaemia occurs when similar gene defects affect the production of the beta globin protein.

Both, Alpha and Beta Thalassaemia include two forms: Thalassaemia Major and Thalassaemia 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.

Thalassaemia Major is a serious disorder, and patients need blood transfusions every 2-4 weeks to maintain haemoglobin 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 Thalassaemis 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 Thalassaemia?

Thalassaemia is caused by faulty genes that affect the production of haemoglobin. 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 thalassaemia major, there’s a 25% chance of each child they have being born with the condition.

What Are The Symptoms Of Thalassaemia?

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

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 heart beat
  • Poor feeding
  • Delayed growth
  • Headaches
  • Greater susceptibility to infections.
How Is Thalassaemia Diagnosed?

Most children with moderate to severe Thalassaemia show signs and symptoms within their first two years of life. If the doctor suspects a child has Thalassaemia, 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 haemoglobin distribution gives the cells a bull’s-eye appearance under the microscope.

Blood tests may also be used to:

  • Measure the amount of iron in the child’s blood
  • Evaluate haemoglobin t
  • Perform DNA analysis to diagnose the condition or to determine if a person is carrying mutated haemoglobin 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 foetuses 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 foetus.
How Is Thalassaemia Treated?

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

Treatments For Mild Thalassaemia:
Signs and symptoms are usually mild with Thalassaemia 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 Thalassaemia complications.

Treatments For Moderate To Severe Thalassaemia:
Treatments for moderate to severe Thalassaemia may include:

  • Frequent Blood Transfusions: More-severe forms of Thalassaemia 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 thalassaemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload.
Can Thalassaemia 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 counsellor – an expert in health issues – who will explain the chances of having a child with Thalassaemia.