What is thalassemia?
Thalassemia is an inherited blood disorder caused by a defect in a gene. The condition causes the body to produce abnormal hemoglobin red blood cells which in turn causes anemia.Red blood cells are important for carrying oxygen around the body. Thalassaemia is sometimes mistaken for iron deficiency anemia until special blood tests are carried out. Thalassemia is a lifelong condition which can be managed.
What are the symptoms of thalassemia?
Thalassemia symptoms depend on the type of thalassemia you have and how severe the anemia becomes. Some people have little or even no symptoms. Other people have mild to severe symptoms. Symptoms of thalassemia may include one or more of the following:
- Tiredness, low energy, or muscle weakness (also called fatigue).
- Lightheadedness or shortness of breath.
- Lack of appetite.
- Dark urine.
- Jaundice (yellowing of the skin and the whites of the eyes).
- In children, slow growth and delayed puberty.
- Bone deformities in the face.
- Abdominal swelling.
Children who are born with thalassemia may show signs of the disease right away, or symptoms may appear later. Most signs and symptoms usually show up within the first 2 years of life. If your child has delayed growth, it’s important to find out if he or she might have thalassemia. Untreated thalassemia can cause heart failure and infection.
What are the causes of thalassemia?
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms. If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
Types of thalassemia
The type of thalassemia depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
- One mutated gene, you'll have no signs or symptoms of thalassemia. But, you are a carrier of the disease and can pass it on to your children.
- Two mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia minor, or you may be told you have an alpha-thalassemia trait.
- Three mutated genes, your signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease.
- Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or a newborn to die shortly after birth.
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
- One mutated gene, you'll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.
- Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major, which is also known as Cooley's anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and symptoms within the first two years of life. A milder form, called beta-thalassemia intermedia, also may occur with two mutated genes.
How is thalassemia diagnosed?
Thalassemia is often detected during pregnancy or soon after birth. Screening for thalassaemia in pregnancy is offered to all pregnant women to check if there's a risk of a child being born with the condition, and some types may be picked up during the newborn blood spot test (heel prick test).Blood tests can also be carried out at any age to check for the condition or to see if you're a carrier of a faulty gene that causes it. Blood tests may also be used to:
- Measure the amount of iron in your child's blood.
- Evaluate his or her hemoglobin.
- Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes.
What are the treatment options for thalassemia?
The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case. Some of the utilized treatments include:
- blood transfusions.
- bone marrow transplant (BMT).
- medications and supplements.
- possible surgery to remove the spleen or gallbladder.
Your doctor may instruct you not to take vitamins or supplements containing iron. This is especially true if you require blood transfusions. People who receive blood transfusions receive extra iron that the body can’t easily get rid of. Iron can accumulate in tissues, which can be potentially fatal.You may also need chelation therapy if you’re receiving a blood transfusion. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
To help reduce your chances of developing some of the problems associated with thalassaemia, it's a good idea to:
- Have a healthy, balanced diet: you don't usually need a special diet, although sometimes you may be advised to take supplements such as folic acid, calcium or vitamin D.
- Exercise regularly: regular exercise, particularly weight-bearing and aerobic exercise, can help strengthen bones and reduce the risk of osteoporosis.
- Avoid smoking: this can help keep your bones and heart healthy.
- Try to avoid infection: wash your hands with soap and water regularly, avoid close contact with sick people when possible and ensure all your vaccinations are up to date.
You should also make sure you take your medication as advised and attend all of your check-ups.
Does my Insurance Policy cover thalassemia?
Yes. According to CCHI unified Policy terms and conditions, health insurance policies in Saudi Arabia cover the treatment of thalassemia, except bone marrow transplant.Please Click Here to access the Unified CCHI Policy Wordings.
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"Thalasemia." Rules. N.p., n.d. Web. Oct. 2016.