Making sense of thalassemia

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Living with thalassemia is no less than a roller coaster ride. Just when you think your counts are doing good… boom you get whiplash, a reality check!

Thalassemia explained

Thalassemia is a group of inherited conditions that prevent the bone marrow from producing enough healthy red blood cells. This leads to low levels of haemoglobin, a protein in the blood which carries oxygen from the lungs to all cells in the body. Low levels of haemoglobin can cause anaemia. Left untreated, anaemia can lead to severe health problems.

Some people with thalassemia develop high levels of iron in the blood. This may be caused by the condition itself or by repeated blood transfusions, which are a common treatment for thalassemia . This is known as iron overload. If it is not treated, iron overload can cause damage to organs such as the heart and liver.

There are a number of different types of thalassemia . These vary from a mild form that needs no treatment to a serious condition that needs lifelong management. Without close monitoring and regular treatment, severe types of thalassemia can be life-threatening.

It is also possible to be a ‘carrier’ of thalassemia with no obvious symptoms.

Thalassemia is present from birth and is a lifelong condition. Current treatments can usually help to keep the symptoms of thalassemia under control, but they do not treat the underlying condition or prevent complications such as iron overload, from getting worse. A range of potential new treatments is currently being studied. One area under investigation is called gene silencing therapy. This aims to target the underlying cause of iron-overload in thalassemia and improve the outlook for thalassemia patients.

+ Why is haemoglobin important?

Healthy red blood cells contain haemoglobin, a protein produced inside the bone marrow. It is haemoglobin that gives blood its red colour.

Haemoglobin is needed to carry oxygen from the lungs to all of the cells in the body. Low levels of haemoglobin can lead to anaemia. If untreated, anaemia can cause a range of symptoms and in severe cases, can be life-threatening.

Haemoglobin contains iron. In some cases, the body tries to absorb more iron than usual or may have low levels of a hormone called hepcidin, which controls iron levels in the body.

This can lead to a build-up of iron in the body, a condition known as iron overload. This can be made worse by repeated blood transfusions which contain iron along with other vital substances.

+ Is there more than one type of thalassemia ?

Haemoglobin contains two different proteins, called alpha and beta proteins. If the body cannot produce enough of either of these, it cannot make enough haemoglobin and the red blood cells cannot carry oxygen in the usual way. thalassemia is classified as alpha or beta, depending upon which protein is lacking.

Thalassemia is also sometimes classified depending upon how severe it is. It may be called thalassemia ‘minor’, ‘intermedia’ or ‘major’. In some countries, thalassemia major is known as Cooley’s anaemia.

It is possible to be a carrier with no obvious symptoms. This is known as thalassemia trait or thalassemia minor. Many people are unaware they carry the thalassemia gene.

+ How many people are affected by thalassemia ?

thalassemia is more common in people from certain parts of the world. These include: Mediterranean countries (such as Greece, Italy and Turkey), South Asia (India, Pakistan and Bangladesh), China and Southeast Asia, North Africa and the Middle East.

It is estimated that on average, 3 in 100 of the world’s population has a thalassemia gene.

80-90 million people worldwide are believed to be carriers of beta thalassemia , with around 60,000 people living with the disease in Europe and the US.

Including beta thalassemia , about 100,000 babies worldwide are born with severe forms of thalassemia each year.

Why do people get thalassemia ?

The disease I have is hereditary, and there is a 50% chance that my daughter will inherit it. I just hope that the day she comes into her teens, and if she carries the same illness as I, that public awareness is better than what it is now. That she will get the help and treatment needed to enable her to live well, to feel good and healthy.

thalassemia is an inherited condition, which means that it is passed from parents to children through faulty genes. It is not possible to ‘catch’ thalassemia from someone else.

Some people carry the thalassemia gene but have no symptoms. This is known as being a carrier or having the thalassemia trait. It is also sometimes called thalassemia minor.

+ The genetics of thalassemia

thalassemia is an inherited condition, which means that it can run in families.

A child inherits haemoglobin genes from both parents.

A child who inherits a faulty gene from one parent will be a carrier but will not have the disease.

A child of two carriers has a 25% chance of developing thalassemia and a 50% chance of being a carrier.

+ How are carriers affected?

A carrier has at least one of the faulty genes that cause thalassemia but does not have the condition themselves. In most cases, they are still able to produce enough normal haemoglobin.

Carriers do not usually have health problems but may experience mild anaemia because their red blood cells are smaller than usual. In most cases, no treatment is needed.

If both parents of a child are carriers, the child has a 1 in 4 chance of developing thalassemia . If two carriers are planning to start a family together, they may be offered counselling to discuss the possibility of conceiving a child with severe thalassemia .

Blood tests can be carried out at any stage of life to see if a person has thalassemia or is a carrier. This is particularly useful if there is a family history of thalassemia .

Your guide to the symptoms of thalassemia

My face was jaundiced; my eyes were hollow, and my lips a pale yellow. I had the classic thalassemia overbite, bossing of the forehead, high cheekbones and was missing my toddler milestones.

The signs of thalassemia often develop a few months after birth but less severe cases may not be obvious until childhood or adulthood. Some people only discover they have thalassemia after a routine blood test.

Almost all people with severe types of thalassemia will develop anaemia, which will require regular, ongoing treatment. They are also at risk of developing health problems caused by iron overload (a build-up of iron in the body). This can be a side effect of repeated blood transfusions or because the disease itself causes the body to store too much iron.

Without close monitoring and regular treatment, severe types of thalassemia can cause serious damage to the heart, bones or liver and can be life-threatening.

+ What are the key features of thalassemia ?

  • Slow growth in children
  • Weak or brittle bones (osteoporosis) or changes to the usual growth of bones in the forehead and jaw
  • Enlarged spleen
  • Symptoms associated with anaemia: severe tiredness, weakness, shortness of breath, palpitations (pounding, fluttering or irregular heartbeats), pale skin or yellowing of the skin and eyes (jaundice)
  • If untreated, anaemia can lead to serious health problems, such as heart disease
  • Symptoms associated with too much iron in the body (iron overload): problems with the heart, liver and hormone levels if untreated

+ Living with thalassemia : the outlook

The outlook for people with thalassemia has improved in recent years but depends on how well complications such as iron overload can be managed.

People with mild types of thalassemia will need little if any treatment and will be able to live normal or near-normal lives.

Those with more serious types of thalassemia (such as beta thalassemia major) will need ongoing specialist care for life to keep their symptoms under control. Unfortunately, current treatments do not treat the underlying cause of the condition or prevent it from getting worse.

The more severe types of thalassemia can cause life-threatening symptoms if untreated.

How thalassemia is diagnosed and treated >

< Thalassemia: key facts