Thalassemia in Singapore: Is your baby at risk?
Thalassemia is a genetic, inherited blood condition, which is caused by an abnormal gene. It is the second most dangerous disease disrupting normal blood flow after anemia. It comes in two main forms: minor and major. While life with minor thalassemia can be totally normal, people suffering from the major type must undergo blood transfusions monthly to stay alive. That’s because thalassemia major affects a person’s ability to produce hemoglobin, which is a component of red blood cells that carries oxygen and nutrients to cells in the body, resulting in anemia.
Types and symptoms of thalassaemia
In, Singapore about 3% of the population are carriers of the thalassemia gene. The cause of thalassemia is a mistake in the information stored in genes on the structure of hemoglobin molecules. An impaired structure of hemoglobin causes the red blood cells to be smaller, less red and transport less oxygen.
When defective, the red blood cells are destroyed in the bone marrow and the spleen. This, in turn, may lead to enlargement of the spleen and the onset of jaundice, and anemia. The symptoms of having major thalassaemia disorder can be manifested as:
- Weakness and fatigue
- Impairment of concentration and attention
- Headaches and dizziness
- Accelerated heartbeat
- Greater tendency to infection
- Pain in the chest and shortness of breath (feeling of a lack of air)
- Skin ulcers
- Deformations of facial bones
- Bone marrow hypertrophy that leads to bone deformation and increased predisposition to pathological fractures.
Thalassaemia and its forms
There are several types of thalassemia which are distinguished based on the severity of its course, and the type of hemoglobin chains. In this article, we will focus on the type of thalassaemia affecting beta hemoglobin chain:
- Thalassemia minor is the mildest form of the disease, where only one strain of the hemoglobin chain is mutated. There is a mild anemia that does not actually require specialized treatment in this situation.
- Thalassemia major is the most severe type of disease. It appears where two strains of the hemoglobin chain beta are mutated. Babies born with this type do not show any symptoms until they reach age 1 or 2. In many cases, there is a need for regular blood transfusion, which is aimed at sustaining the patient’s life.
Who’s at risk for thalassaemia?
Thalassaemia is a hereditary condition, hence a family history of the condition is the main risk factor for passing it to your children. Couples who are both carriers have a 25% risk of producing a child with thalassaemia with each pregnancy. That’s why detection, and knowing your family medical history, is so important for all couples who are planning to have a baby.
Another risk factor is ethnic background, as this disorder is most commonly found in ethnicities hailing from Africa, Asia and the Mediterranean.
How is thalassaemia inherited?
The disease is passed to children by parents who carry the mutated thalassemia gene. If only one parent has the thalassemia minor gene, the chances of having a baby with thalassaemia are as follows:
- 50% chance of having a child with thalassemia minor
- 50% chance of having a normal child
- 0% chance of having a child with thalassemia major
If both parents have Thalassemia minor, the chances of having a baby with thalassaemia are as follows:
- 25% chance of having a child with thalassemia major
- 50% chance of having a child with thalassemia minor
- 25% chance of having a normal child
The chances are the same with each pregnancy, no matter how many children the couple may have.
Diagnostics and treatment of thalassaemia
Recognizing this condition can be very difficult, because it is easy to confuse it with anemia associated with iron deficiency. Often the first symptom leading to diagnosis of the disease is enlargement of the spleen. Due to diagnostic difficulties, the doctor usually commissions some tests, including:
- blood count (checking the shape of red blood cells, which is normal when thalassemia)
- x-ray of bones
- assessment of the level of iron in the body
- hemoglobin electrophoresis (a test to detect an abnormal form of hemoglobin)
- biopsy or taking a bone marrow fragment
Treatment of thalassemia major involves regular transfusions of red blood cells. Thanks to this, it is possible to stop the production of defective blood cells and prevent abnormal bone growth and cardiac abnormalities.
It is worth mentioning that every time a blood transfusion occurs, the body is supplied with a large amount of iron, which an organism cannot generally fully cope with. As a consequence, iron is deposited in various tissues, damaging them. Excessive iron can be removed through chelation therapy.
Occasionally a splenectomy, or removal of the spleen, is required. This treatment reduces the number of blood cells destroyed in the spleen.
As of now, the only known treatment that can actually cure a patient of thalassemia major is a bone marrow transplant, assuming a suitable donor is found, which is very rare.
Can thalassaemia be prevented?
Because thalassemia is passed from parents to children, it is hard to prevent. If you are planning to have a baby, and know that someone in your family had thalassemia or anemia, then both you and your partner would have to take a DNA and blood test to find out whether any of you might be a carrier. A further meeting with a genetic counselor would also be required.
Is thalassaemia screening and treatment covered by any insurance policy?
Depending on your plan, screenings and genetic counseling might be covered. When planning a family, check with your insurance provider or insurance broker if your policy will cover these costs.
Another thing to point out is how important it is to secure a maternity plan in Singapore. Any congenital condition, and thalassaemia is considered one, will be covered under a comprehensive maternity plan for up tp 30 days from the baby’s birth. That means if the baby is born with any birth defect, all the immediate medical care that it needs will be cover in full.
However, an issue can arise after the initial 30-day coverage under a maternity insurance plan for newborn finishes. If a parent enrolls their baby within that time under their plan, they can get coverage for thalassemia, but since many congenital conditions will require lifelong care – like in the case of thalassaemia major – benefits will be capped by a lifetime benefit value, and this benefit can get drained very quickly, eventually leaving a thalassaemia sufferer basically uncovered for the condition.
If parents miss the deadline and don’t enroll their baby within 30 days from birth, inherited conditions may be deemed by insurers as pre-existing after a baby is no longer under mother’s maternity plan. That means insurance plans rarely cover the congenital condition. If your baby, however, has inherited thalassaemia minor, some insurers will be ready to cover your newborn baby.
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