Thalassemia is an inherited blood disorder that happens when your body does not produce enough haemoglobin. Thalassemia sufferers produce either too much or too little haemoglobin. As a result, sufferers will experience anemia with symptoms such as fatigue, shortness of breath, and paleness.
Thalassemia is a relatively rare disease. According to research, only 4.4 percent or 440 out of 10,000 births are affected by this disease.
There are two types of thalassemia:
- Alpha thalassemia – a mild thalassemia that occurs when genes related to globin proteins are missing.
- Beta thalassemia – a more severe thalassemia that occurs when the production of beta globin protein is affected by the mutated gene
Symptoms of thalassemia may potentially cause complications, such as heart failure, liver problems, growth retardation, even death.
Most thalassemia sufferers come from South Asia, Southeast Asia and the Middle East. Thalassemia is generally caused by genetic factors.
Causes of Thalassemia
Thalassemia occurs due to mutations in the DNA of cells that produce haemoglobin. Parents may pass thalassemia to their children.
In general, thalassemia are genetic disorders inherited from a person’s parents. There are no other factors that cause a person to develop thalassemia.
When to See a Doctor for Thalassemia
You can consult a haematologist regarding the symptoms of thalassemia experienced. A haematologist is a specialist doctor who studies blood disorders.
The haematologist will perform a series of tests to confirm the patient’s condition. The most common test performed is a blood test.
Blood tests can help identify if someone has thalassemia due to genetic factors. However, the blood test is usually done during pregnancy or right after childbirth.
From the results of the blood tests, the significant signs of thalassemia can be identified:
- Abnormal sizes and shapes of red blood cells under a microscope.
- Uneven distribution of haemoglobin.
- Complete peripheral blood count (DFL) shows less haemoglobin than normal.
- Red blood cells are paler than normal.
Symptoms of Thalassemia
Thalassemia can cause a variety of symptoms and lead to various health problems. Some of the most common symptoms are:
- Anemia. Nearly all thalassemia sufferers experience acute anemia which can be life-threatening. Anemia can occur due to low haemoglobin levels. Some of the characteristics of anemia include fatigue, respiratory problems, irregular heartbeat, and pale skin.
- Iron overload. A person suffering from thalassemia will experience overloaded iron which could potentially cause other health problems. Iron overload may lead to heart problems, swelling and sores around the liver, delayed puberty, diabetes, and low hormone levels.
There are also some other uncommon symptoms of thalassemia, such as:
- Stunted growth in children
- Small stones in the gallbladder that can cause inflammation of the gallbladder and jaundice.
- Abnormal bone growths, such as enlarged forehead and cheeks.
- Decreased fertility.
Treatment for Thalassemia
Thalassaemia usually requires lifelong treatment with blood transfusions and medication. Children and adults with thalassaemia will be supported by a team of healthcare professionals at a specialist thalassaemia centre.
Treatment for thalassemia may include:
- Blood transfusion. This treatment is one of the options to treat anemia. This process is performed by supplying blood through a tube inserted into a vein in the arm. This process may take a while and is generally done in a hospital.
- Iron overload medications. Regular blood transfusions can cause increased iron levels in your body. The doctor may recommend medications called chelation therapy.
- Stem cell or bone marrow transplant. This transplant is the only way to cure thalassemia. However, this method is rarely used given that it has a high risk. The primary risk is that the transplanted cells might attack other body cells. Therefore, this transplant is only to treat severe cases of thalassemia.
Thalassemia patients will undergo several checkups, especially in the case of pregnant thalassemia sufferers:
- Pregnancy checkups. This is done to determine whether the baby has the potential to develop thalassemia. The doctor may advise you to perform the check-up prior to 10 weeks of pregnancy.
- Postpartum checkups. You do not have to appoint a regular newborn checkup schedule — as the test results are not always reliable and thalassemia does not have immediate harmful effects. However, beta-type thalassemia can be diagnosed as part of a newborn’s blood spot test.
Treatment Cost for Thalassemia
The cost for thalassemia treatment varies – depending on the patient’s age and type of thalassemia experienced.
For more information regarding the estimated costs of thalassemia treatment, contact Smarter Health.
Prevention of Thalassemia
Since it is a genetic disease, you cannot completely prevent thalassemia. However, there are preventive measures that may help reduce the risk of developing thalassemia symptoms in babies, such as:
- For parents, you should schedule blood tests to confirm the possibility of thalassemia prior to pregnancy
- Get a genetic consultation.
- Conduct a health screening or medical check-up prior to pregnancy
Thalassemia can be reduced by identifying the risk factors. The risk factors include:
- Age. Symptoms of thalassemia generally occur in infants within 6 to 24 months old
- Family history. You should find out if there is thalassemia in your family’s medical history.
- Certain ethnicities. Generally, thalassemia sufferers are people who live or come from South Asia, Southeast Asia, and the Middle East.
Home Remedies for Patients Diagnosed with Thalassemia
In general, thalassemia treatment is a long process. Most medical procedures to treat thalassemia are done in hospitals.
A home remedy that you can undertake to treat thalassemia is by adopting a healthy lifestyle. You are encouraged to consume low-fat foods, vegetables, and fruits. Foods to avoid include beef and chicken liver.
Moreover, it is also advised for you to exercise regularly. Consult your doctor regarding the right types of exercises for you.
In addition to implementing a healthy lifestyle, your doctor may also recommend an additional series of treatments.