How Much Do We Know About Thalassaemia?

People with thalassaemia are now living longer and enjoying a higher quality of life.

1. What is thalassaemia?

Thalassaemia is an inherited blood disorder in which the body makes an unusual form of haemoglobin. Haemoglobin is the protein particle in red platelets that carries oxygen.

Thalassaemia results in an excessive decrease of red blood cells. Individuals with thalassaemia are not able to produce enough haemoglobin, which causes severe anaemia. Anaemia is a condition where your body lacks healthy red blood cells.

2. Are there specific types of thalassaemia?

Hemoglobin is made of two proteins, namely alpha globin and beta globin. Thalassaemia occurs when there is a defect in a gene that helps to regulate one of these proteins’ development.

There are two main types of thalassaemia:

  • Alpha thalassemia happens when alpha globin protein-related genes or genes are missing or changed (mutated).
  • Beta thalassemia happens when development of the beta globin protein is impaired by similar gene defects.

3. What causes thalassaemia?

  • Thalassaemia happens when one of the genes involved in the development of haemoglobin has an abnormality or mutation. This genetic abnormality is inherited from one’s parents.
  • Individuals with mild to extreme types of thalassemia typically find out about their condition when they show signs of severe anaemia. 
  • Individual with less serious types of thalassemia typically find out only when they have symptoms of anaemia, or if anaemia is detected during a regular blood test.  
  • You have a higher risk of inheriting a more severe form of the disease if both of your parents are carriers of thalassemia.

4. How can thalassaemia be detected?

Blood tests, such as a full blood count (FBC) and special haemoglobin tests, are used to detect thalassaemia. 

  • A full blood count (FBC) determines the amount of haemoglobin and various types of blood cells, such as red blood cells, in a blood sample. In thalassaemia patients, there are less healthy red blood cells and less haemoglobin than the average count. Red blood cells in people with alpha or beta thalassemia can be less than the average count.
  • A haemoglobin analysis is used to determine which forms of haemoglobin are present in a blood sample. The alpha or beta globin protein chains of haemoglobin are damaged in thalassaemia patients.

5. If I have thalassaemia, how does it affect my body? Are there any signs and symptoms of thalassemia?

The signs of thalassaemia vary. Some of the more prevalent ones include:

  • Infections
  • Increased Iron content 
  • Deformities of the bones
  • Dark coloured urine
  • Delayed production and growth
  • Excessive fatigue or exhaustion
  • Pale or yellow skin

Not everybody has symptoms that are apparent. In childhood or adolescence, symptoms of the disease might not appear.

6. Are there any complications resulting from thalassaemia?

Patients with moderate to serious thalassaemia can now live longer, thanks to improved therapies. However, they must deal with the long-term consequences.

Complications can include heart disease, liver disease, infections and osteoporosis.

7. Who are at risk of developing thalassaemia?

Individuals with mild to extreme types of thalassaemia have severe anaemia symptoms early in life. They will normally find out about their condition in childhood.

Individuals with less serious types of thalassaemia will only find out when they are experiencing anaemia symptoms, or because a doctor discovers anaemia during a regular blood test or another test. 

Due to the fact that thalassaemia is hereditary, they can run in families. Some individuals learn about their thalassemia from relatives who have the same disease.

8. Is thalassaemia treatable?

The type of treatment a person requires is determined by the severity of his or her thalassaemia. The more severe the thalassaemia, the less haemoglobin the body produces, and the greater the risk of anaemia.

Increasing the number of red blood cells in the body to carry oxygen is one way to treat anaemia. A blood transfusion is a safe and normal procedure that involves receiving blood through a small plastic tube inserted into one of your blood vessels. 

Since thalassaemia patients produce too little haemoglobin, some people with thalassemia — commonly thalassemia major — require daily blood transfusions. People with thalassaemia intermedia may need blood transfusions occasionally, such as when they are sick or have an infection.

People with thalassaemia minor or trait do not normally need blood transfusions unless they are anaemic or have moderate anaemia.

A dietary B vitamin known as folic acid is often prescribed to people with thalassaemia to help treat anaemia. Folic acid can aid in the development of red blood cells. Folic acid therapy is commonly used in conjunction with other treatments.

9. Can thalassemia be prevented?

Since thalassaemia is hereditary, there is no way to avoid them. Prenatal tests, on the other hand, can detect these blood disorders before birth.

Family genetic studies can aid in determining whether people have thalassaemia-causing haemoglobin genes that are missing or altered.

If any of your family members have thalassaemia and if you are considering having children, consult your doctor and a genetic counsellor. They can help you figure out whether you are at risk of passing the disease on to your children.

10. What kind of care do thalassaemia patients need?

For people with mild to extreme thalassaemia, survival and quality of life have increased because of the following reasons: 

  • Blood transfusions are also available to a larger number of people.
  • The number of infections caused by blood transfusions has decreased as a result of blood screening. Treatments for other types of infections are also available.
  • There are iron chelation therapies available that are more convenient for certain people.
  • Blood and marrow stem cell transplants have healed some patients.

Living with thalassaemia can be difficult, but there are many ways to cope, such as:

  • Follow up with your treatment plan. It is important that you adhere to your doctor’s treatment plan.
  • For instance, get blood transfusions as directed by your doctor, and take your iron chelation medication as directed. Chelation therapies are also available in a variety of forms, including injections and tablets. Your doctor will discuss which care option is best for you.
  • Get consistent medical care. Keep all of your medical appointments and get any tests that your doctor suggests. These tests can include the following:
  • Every three months, full blood counts and blood iron level tests are performed.
  • Heart function, liver function, and viral infection tests are done once a year.
  • Yearly test to determine if your liver has built up any iron.
  • Blood transfusions must be checked on a regular basis.
  • Additional tests as required and advised by your haematologist.

11. How do blood transfusions affect my body?

Iron overload can occur in people who receive a lot of blood transfusions. Since red blood cells contain a lot of iron, the iron from all of the transfusions will accumulate in the body over time.

When iron builds up in organs like the heart, liver, and brain, it may make it difficult for these organs to function properly. People with thalassaemia need chelation therapy, which involves doctors administering a medication — either a pill or a shot under the skin — to extract excess iron from the body until it accumulates in the organs.

When a person receives a blood transfusion, their risk of developing a condition known as “alloimmunisation” increases. When a person’s immune system perceives blood from a transfusion as toxic and attempts to kill it, this is known as alloimmunisation.

All immunised people can still have blood transfusions, but the blood must be screened and compared to their own blood to ensure that it won’t be destroyed by their immune system.

This takes time, and people with alloimmunisation may have to wait longer for blood or have a more difficult time finding blood that won’t be destroyed by their bodies.

Another problem for people who receive a lot of blood transfusions is the blood’s protection. Some diseases, such as hepatitis, may be transmitted by blood. There is a very small chance of contracting an infection after receiving a blood transfusion.

12. Are blood transfusions required for all the types of thalassaemia?

Since thalassaemia patients produce too little haemoglobin, some people with thalassaemia – commonly thalassaemia major – require daily blood transfusions.

Individuals with thalassaemia intermedia would need blood transfusions on occasion, such as when they are ill or when they get an infection.

Individuals with thalassaemia minor or trait do not normally need blood transfusions.

13. What are the things that a thalassaemia patient should know?

  • An individual who carries the thalassaemia trait is healthy. Being a thalassaemia patient has no documented health consequences that necessitate medical attention. Thalassaemia will not affect the ability to work, eat, or exercise.
  • Carriers with thalassemia have fewer red blood cells, which may induce a slight anaemia.
  • Family planning: If you intend to have a baby and know you are a thalassaemia patient, having your partner checked is a wise decision. If you are both carriers, consult a haematologist to learn about the risks to your children and what your options are.
  • Pregnancy wellbeing: Women who have the gene may have a higher risk of anaemia during pregnancy. It is important to speak with a haematologist about the symptoms.

The treatment for thalassaemia has progressed over time. People with thalassaemia, whether mild, intermedia or major, are now living longer and enjoying a higher quality of life.

Complications from thalassaemia and their treatments, on the other hand, are common. People with moderate to extreme thalassaemia must adhere strictly to their care plans.

This article was written by Beacon Hospital.

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