Thalassaemia: Causes, Symptoms, Diagnosis, and Treatment

Thalassaemia
Thalassaemia is an inherited blood disorder that causes your body to have less haemoglobin than normal. When there isn’t enough haemoglobin, our body’s red blood cells don’t function optimally and last shorter periods of time, so fewer healthy red blood cells travel in the bloodstream.And when there is a lack of adequate healthy red blood cells, not enough oxygen gets delivered to other cells of the body, causing a person to feel weak, tired, or short of breath. This condition is called anaemia.

People with thalassaemia may have mild or severe anaemia. Severe anaemia can damage organs and even lead to death. In India, every year 10,000 children are born with thalassaemia which approximately accounts for 10% of the total world incidence of thalassaemia-affected children and one in eight of thalassaemia carriers live in India.

How toKnow If I Have Thalassaemia

People with moderate and severe forms of thalassaemiagenerally find out about their condition in childhood, since they usuallydevelop severe anaemia early in life. People with less severe forms of thalassaemia may find out if they have symptoms of anaemia or if a doctor suspects or finds anaemia on a routine blood test or a test done for some other reason.

Because thalassaemiais inherited, the condition sometimes runs in families. Some people find out about their thalassaemia because they have close relatives with the condition.

People who have family members from certain parts of the world have a higher risk for having thalassaemia. Traits ofthalassaemia are more common in people from Mediterranean countries, like Greece and Turkey, and in people from Africa, Asia, and the Middle East. If you have anaemia and also have family members belonging to these places, your doctor may test your blood to find out if you have thalassaemia.

What are the Different Types of Thalassaemia

When we talk about different types of thalassaemia, we talk about one of two things:

  • The specific part of haemoglobin that is affected (either alpha or beta)
  • The severity of thalassaemia

Haemoglobin, which carries oxygen to all cells in the body, is made of two different parts: alpha and beta. When thalassaemia is called alpha or beta, it refers to the part of haemoglobin that is not being made. If either the alpha or beta is not made, there aren’t enough building blocks to produce normal amounts of haemoglobin. Low alpha is called alpha thalassaemia and low beta is called beta thalassaemia.

 ‘Trait’, ‘minor’, ‘intermedia’, or ‘major’ are words used to describe how severe the thalassaemia is. A person who has thalassaemia may either not have any symptom or may suffer from mild anaemia, while a person with thalassaemia major may have severe symptoms and even require blood transfusions.

In the same way that traits for hair colour or body structure are passed down from parents to their children, thalassaemia traits are passed from parents to children. The type of thalassaemia a person suffers from depends on the type of traits of thalassaemia the person has inherited from their parents.

For instance, if a person receives a beta thalassaemia trait from his mother and another from his father, he will have beta thalassaemia major. If a person received an alpha thalassaemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassaemiaor alpha thalassaemia minor. Having a thalassaemia trait means that you may not have symptoms but you can pass that trait on to your children, increasing their risk of havingthalassaemia.

Sometimes, thalassaemia can be referred to by other names, like Cooley’s Anaemia, Constant Spring, or haemoglobin Bart hydrops fetalis. The names are specific to certain kinds of thalassaemia – for instance, Cooley’s Anaemia is same as beta thalassaemia major.

Common Symptoms of Thalassaemia

These can include:

  • Slow growth in babies and children
  • Wide or brittle bones
  • Enlarged spleen
  • Extreme fatigue
  • Weakness
  • Yellow or pale skin
  • Dark urine
  • Poor appetite
  • Heart problems

In some people, symptoms are evident at right birth. In others, it can take some years to see anything. Some individualswiththalassaemiamay not show any signs at all.

Can I Prevent Thalassaemia

Because thalassaemia is passed from parents to children, it is hard to prevent. However, if you or your partner know a family member suffering fromthalassaemia or if you both have family members from countries where thalassaemia is common, you can speak to a genetic counsellor to determine the possible risks of passing thalassaemia to your children.

How is ThalassaemiaTreated

Your healthcare provider will figure out the best treatment for you based on:

  • Your age, overall health, and medical history
  • How sick you are
  • How well you cope with certain medicines or therapies
  • How long the condition lasts
  • Your preference

Treatment may include the following:

  • Daily doses of folic acid
  • Blood transfusions (as needed)
  • Surgery to remove spleen
  • Medicines to reduce extra iron from your body (called iron chelation therapy)

Healthy Living with Thalassaemia

A healthy lifestyle is important for everyone. For those with thalassaemia, it is especially important to know that a healthy lifestyle indicates both: managing the disorder as well as making healthy choices.
#1 Managing Thalassaemia
A thalassaemia patient will need medical care regularly, especially from a haematologist (a medical specialist who treats blood disorders) or from a doctor specializing in treating thalassaemia patients. If a doctor has prescribed blood transfusion or chelation therapy, the most important thing a person with thalassaemia can do is stick to theschedules to prevent severe anaemiaor possible organ damage.
Other healthy choices a thalassaemia patient must consider include the following:

#2 Keeping vaccinations up-to-date

Vaccines are a great way of preventing serious infections. Both children and adults with thalassaemiamust get all the recommended vaccinations. Thalassaemiapatients are considered ‘highrisk’ for several infections.

#3 Eating nutritious meals

Eating nutritious foods is imperativefor a healthy lifestyle. A diet that incorporates fresh fruits and vegetables and is low in fat is ideal for gaining essential nutrients. For thalassaemia patients, because too much iron may build up in the blood, foods high in iron may need to be limited. Iron is found in meat, fish, and vegetables like spinach. Thalassaemia patients must discuss with their doctor whether they should limit iron intake.
#4 Exercising
Exercise is part of a healthy lifestyle. Although some thalassaemia patients may have trouble performingvigorous exercises, many thalassaemiapatients can carry out moderate physical activities, including running, biking, and walking. Consult your doctor to know the exercises that would be ideal for you.

#5 Building positive relationships

Supportive relationships are an important part of life. Friends, co-workers, family members, classmates, and neighbours can offer support in managing thalassaemia and coping with stress.

If a romantic relationship becomes sexual, make healthy decisions, such as getting tested for sexually transmitted diseases and ensuring protected sexual intercourse. Also, if you have thalassaemia trait, thalassaemia, or a family member has thalassaemia, genetic counselling is recommended prior to any pregnancy, so that both you and your partner are aware of the chances of giving birth to a child with thalassaemia.

Experts suggest that the trend can be curbed if couples undergo thalassaemia screening, especially before marriage. To reduce the burden of thalassaemia, it is essential that disease progression is halted at the carrier stage. When two thalassaemia carriers marry and plan to have children there is a one-in-four chance of having a thalassaemic baby at every conception.

A simple blood test for thalassaemia before marriage will let couples know if they are carriers or not. If both are non-carriers, there is no need to worry. But if both are carriers, they may either decide not to have any children or go for amniocentesis – a test to detect if the child is affected or not – within the first 12 weeks of pregnancy.

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