Thalassemia is the name for a group of inherited conditions which affect a substance in the blood known as hemoglobin.
Persons with thalassemia produce either no or too little hemoglobin, which is used by red blood cells to carry oxygen all over the body.
This can make them really anemic (tired, short of breath and pale).
It mainly affects persons of Mediterranean, south Asian, southeast Asian and Middle Eastern origin.
There are different types of thalassemia, which can be separated into alpha and beta thalassemia. Beta thalassemia major is the most severe kind.
Other kinds include beta thalassemia intermedia, alpha thalassemia major and hemoglobin H disease.
It's also possible to be a "carrier" of thalassemia, also referred to as having the thalassemia trait.
Being a beta thalassemia carrier will not generally cause you any health problems, but you're at risk of having children with thalassemia.
Symptoms of Thalassemia
Many people born with thalassemia experience health troubles from a few months after birth.
Less serious cases may not be noticeable until later in childhood or even until adulthood.
The major health problems related to thalassemia include:
• anemia – severe tiredness, weakness, shortness of breath, pounding, fluttering or unbalanced heartbeats and pale skin caused by the lack of hemoglobin
• too much iron in the body – this is caused by the normal blood transfusions used to care for anemia and can cause problems with the heart, liver and hormone levels if untreated
Some persons may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility.
Causes of Thalassemia
Thalassemia is as a result of faulty genes that affect the production of hemoglobin.
A child can only be born with thalassemia if he or she inherits these faulty genes from both parents.
For example, if both parents have the faulty gene that causes beta thalassemia major, there's a one in four chance that each child they have will be born with the condition.
The parents of a child with thalassemia are typically carriers. This means they only have 1 of the faulty genes.
Screening and testing for Thalassemia
Thalassemia is regularly detected during pregnancy or soon after birth.
Blood tests may be carried out at any age to check for thalassemia or to see if you're a carrier of a faulty gene that causes it.
Treatments for Thalassemia
People with thalassemia major or other severe types will need specialist care throughout their lives.
The main treatments are:
• blood transfusions – normal blood transfusions treat and prevent anaemia; in severe cases these are needed once a month
• chelation therapy – treatment with medicine to take away the excess iron from the body that builds up as a result of having regular blood transfusions; some people with thalassemia get a build-up of iron even without transfusions and require treatment for this.
Eating a healthy diet, doing regular exercise and not smoking or drinking a lot of alcohol can also help you stay as healthy as possible.
The only possible cure for thalassemia is a stem cell or bone marrow transplant, but this is not done very often because of the risks involved.
Stem Cell or Bone Marrow Transplants
Stem cell or bone marrow transplants are the only cure for thalassemia, but they're not done regularly because of the significant risks involved.
Stem cells are produced in bone marrow, the spongy tissue found in the centre of some bones, and have the ability to grow into different types of blood cells.
For a stem cell transplant, stem cells from a healthy donor are taken through a drip into a vein.
These cells then start to create healthy red blood cells to replace the cells affected by thalassemia.
A stem cell transplant is an intensive treatment that carries numerous risks.
The major risk is graft versus host disease, which is a life-threatening issue where the transplanted cells start to attack the other cells in your body.
For people with severe kinds of thalassemia, the long-standing benefits of a stem cell transplant will need to be considered against the possible risks to help determine if the treatment is right.
Outlook for Thalassemia
Although the major health issues related to thalassemia can normally be managed with treatment, it's still a serious health problem that can have a huge impact on a person's life.
Even in mild cases, there's still a risk you could pass on a more severe type to your children.
Without close monitoring and normal treatment, the most severe types can cause serious organ damage and be life threatening.
In the past, severe thalassemia was often fatal by early adulthood. But with recent treatments, people are likely to live into their 50s, 60s and beyond.
Carriers of Thalassemia (having the thalassemia trait)
A carrier of thalassemia is a person who carries at least 1 of the faulty genes that causes thalassemia, but does not have thalassemia themselves. It's also known as having the thalassemia trait.
If you're a thalassemia carrier, you will not develop thalassemia. Being a carrier will not usually cause you any health problems.
But you may get mild anemia due to your red blood cells are smaller than usual and your hemoglobin level may be slightly lower than normal.
This is not the same as iron deficiency anemia and does not require any treatment.
If you're a thalassemia carrier, you're at risk of having a child with thalassemia if your partner is also a carrier.
You can request a blood test to check if you're a carrier of thalassemia from your doctor or nearest sickle cell and thalassemia Centre.
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