Thalassemia is a genetic blood disorder that can pass from parent to child, both male and female. An affected person suffers from anaemia (low blood count) as a result of thalassemia and it can have a range of clinical manifestations depending on the number of abnormal genes inherited, diagnosed through a thalassemia screening test.
About three percent of Singapore’s population are carriers of the thalassemia gene. So, if either you or your partner has thalassemia, your child would be at a higher risk of carrying the gene. Expecting mums then must get a thalassemia screening test during pregnancy.
But first, let’s understand thalassemia, its types, symptoms, causes, and treatment.
What Is Thalassemia?
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An abnormal gene causes thalassemia, which is the second most dangerous disease disrupting normal blood flow after anaemia. It restricts a person’s ability to produce haemoglobin, which carries oxygen from the lungs to all parts of the body.
A person suffering from thalassaemia will have either one of the haemoglobin chains missing, or produce a small amount, or have an abnormal function. As a result, the haemoglobin in the red blood cells does not function properly.
What Are The Different Types Of Thalassemia?
There are two forms of thalassemia – major and minor.
Minor thalassemia is particularly common and quite mild wherein only one strain of the haemoglobin chain mutates. It does not require specialised treatment. Children and adults diagnosed with thalassemia minor can live a normal life despite the condition.
Thalassemia major is life-threatening and requires patients to undergo blood transfusions every month. It is a severe form of anaemia and occurs when two thalassemia genes are inherited from each parent. Thalassemia major can pose several risks including miscarriage, poor growth and development, and a shorter life span.
Babies born with thalassemia major may not show symptoms until they reach the age of one or two years old.
What Are The Symptoms Of Thalassemia Major?
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The lack of haemoglobin in red blood cells causes them to be destroyed in the bone marrow and the spleen. The consequence of this is the enlargement of the spleen and the onset of jaundice and anaemia in the baby. If you think your baby is at risk of developing thalassemia major, here are the symptoms to look out for:
- Fatigue
- Paleness
- Lack of concentration
- Headaches and dizziness
- Accelerated heartbeat
- Higher risk of infection (low immunity)
- Shortness of breath
- Skin ulcers
- Deformation of facial bones
- Bone marrow deformation and increased predisposition to pathological fractures
Can My Child Get Thalassemia?
Thalassemia is hereditary and the medical family history of both parents need a thalassemia screening test to check for any possibilities.
Couples who are both carriers of thalassemia have a 25 percent chance of giving birth to a child with the condition. Both partners should always screen themselves for a possible risk before trying to start a family.
You can always do it during the pregnancy as well. The thalassemia screening test involves a simple blood test with the results out in a couple of weeks.
Identifying high-risk populations for thalassemia is also necessary for understanding its recurrence. For instance, carriers in Greece are around 7.5 percent of the general populace. Carriers in Greece are around 7.5 percent of the general populace. It’s higher in ethnicities from the Middle East, Eastern Mediterranean, India, and Africa.
How Is Thalassemia Inherited?
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The disease is passed on to children by parents who carry the mutated gene. Here’s how you can determine the chances if your child can get thalassemia.
If a single parent has the thalassemia minor gene:
- 50 percent chance the child will have thalassemia minor
- 50 percent chance of having a normal child
If both parents have Thalassemia minor:
- 25 percent chance the child will have thalassemia major
- 50 percent chance the child with thalassemia minor
- 25 percent the child will not get either
Experts suggest that the odds remain the same with each pregnancy.
Thalassemia Screening Test: How Do You Diagnose It?
Do not confuse Thalassemia with an iron deficiency that also causes anaemia. However, the first symptom of thalassemia is an enlargement of the spleen. To diagnose the disease, the doctors will suggest the following thalassemia screening test(s):
- X-ray of bones
- Red blood cell count
- Haemoglobin electrophoresis
- Iron level count
- Biopsy
What Is The Treatment After A Thalassemia Screening Test?
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Thalassemia major requires regular blood transfusions, which can only be diagnosed through a thalassemia screening test. This, in turn, makes it possible to stop the production of defective blood cells and prevent abnormal bone growth and cardiac issues.
Certain patients may also require the removal of the spleen or splenectomy. This reduces the number of blood cells destroyed in the spleen. The long term solution to treating thalassemia major is a bone marrow transplant. This requires finding a suitable donor that can take time.
Thalassemia patients also struggle with higher deposits of iron due to the blood transfusion process. This causes more iron than required to enter the body and deposit itself in tissues. Patients need to undergo chelation therapy to get the excessive iron out that can damage the tissues.
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