Thalassemia is a genetic anemia or inherited anemia that is most common in Thailand. Currently, about 12 out of 1,000 newborns in Thailand have this disease, which means there are more than 12,000 newborn children with thalassemia each year.
Recently, it has been found that there are as many as 300,000-400,000 patients with severe thalassemia who require regular blood transfusions. To properly manage this, here are recommendations for caring for children with thalassemia from Dr. Usnaras Anurathapan, a pediatrician at Phyathai 2 Hospital.
What causes thalassemia?
Thalassemia is caused by a genetic abnormality in red blood cells. Normally, red blood cells contain a protein called hemoglobin, which carries oxygen to various parts of the body. Patients with thalassemia either cannot produce hemoglobin or produce abnormal hemoglobin, causing red blood cells to break down more easily than normal or the body to produce fewer red blood cells. This leads to anemia, increased bone marrow activity to produce more red blood cells, and changes in facial features such as a prominent forehead, high cheekbones, and a flat nose bridge. Internal organs affected include an enlarged liver and spleen and thickened bones. In severe thalassemia cases, patients are very anemic and, if not regularly transfused, may experience delayed growth and delayed puberty.
Pre-pregnancy blood testing… to assess the risk of thalassemia in children
Currently, screening tests are performed for couples to identify thalassemia carriers, and all pregnant women are screened to determine if they are carriers. If the mother is a carrier, the child has a chance of being a carrier as well. If both parents are carriers, the child has a chance of having severe thalassemia. There are currently three types of severe thalassemia: Alpha 1, Alpha 2, Beta E, and CS types, among others.
If screening shows the mother is a thalassemia carrier, the father must also be tested. However, a common problem is that fathers often refuse to get tested. By the time they agree or the results are known, it may be too late to prevent the disease.
What should parents do if their child has severe thalassemia?
If both parents are found to be thalassemia carriers, the child is at risk of having one of the three severe types. The next step is to perform amniocentesis, chorionic villus sampling, or fetal blood sampling to check if the fetus has severe thalassemia.
If the child has severe thalassemia, doctors will inform the parents about the possible outcomes if the pregnancy continues. Some types may result in the baby being stillborn, some may be born severely anemic, and others may show symptoms from 1-2 years old or before entering elementary school, depending on the severity. After birth, the child will require regular blood transfusions.
Once the child is diagnosed with thalassemia, parents must bring the child to the hospital monthly for blood tests and transfusions. If the disease is very severe and significantly affects the child’s quality of life, doctors may recommend terminating the pregnancy early.
How to care for children with thalassemia
Regarding the environment for children with thalassemia, special care is not heavily required, but nutrition must be carefully managed. Children with thalassemia are anemic and must have a balanced diet with all five food groups, eating three meals a day. Hygiene and health must be maintained, and vitamins prescribed by the doctor must be taken regularly. For those receiving regular blood transfusions, iron chelation therapy must be taken consistently to ensure a long and quality life.
Caution! Thalassemia patients may have more health problems than the general population
Thalassemia patients can be divided into 2 groups
- The first group has anemia but does not require blood transfusions and has symptoms similar to general thalassemia patients.
- The second group receives regular blood transfusions, has no anemia or other symptoms, but the problem with regular transfusions is iron overload in the body. If iron chelation therapy is not taken consistently, iron levels will rise and accumulate in various organs. For example, accumulation in the heart can cause heart failure, in the lungs or liver can cause fibrosis, in the kidneys can cause kidney failure, and in the skin can cause darkening, leading to ongoing complications.
If patients do not receive regular blood transfusions, they will be anemic and have an average life expectancy of about 20-30 years. Nowadays, if patients receive regular transfusions, their lifespan is much longer than before, but they still face risks of complications from other diseases and require increased medical care.
Is there a cure for thalassemia?
Currently, severe thalassemia can be cured by stem cell transplantation from a donor with matching or compatible tissue types.
Stem cells can be obtained from the donor’s bone marrow, peripheral blood, or from the umbilical cord blood and placenta of newborns. Usually, the search starts with siblings of the patient, who have a 1 in 4 chance of matching. If no match is found, donors are sought from registered volunteer stem cell donors.
However, stem cell transplantation to cure thalassemia should be performed when the patient is young, before the liver and spleen enlarge significantly, or before receiving many blood transfusions, or if many transfusions have been received, iron chelation therapy must have been taken regularly and adequately, which leads to better treatment outcomes.
