When couples decide to start a family together, one important thing is getting a health check to find out if there is a risk of developing a genetic disease. Thalassemia should not be overlooked as it is the most common genetic disease in Thailand. Many people don’t even know they are carriers. So, here’s what we know about thalassemia, its symptoms and how to prevent it.
Getting to know thalassemia
Thalassemia is a type of anemia with abnormal red blood cells. It can be inherited from parents which directly affects pregnant mothers. Those with latent thalassemia don’t have any symptoms, so you only find out after a blood screening. This can be harmful to the unborn child, especially when both parents are found to be severe carriers, putting the fetus also at risk of severe thalassemia.
How does thalassemia occur?
Thalassemia is a genetic disorder caused by a recessive gene resulting from mutation of the gene that controls the synthesis of hemoglobin; an important protein in red blood cells which carries oxygen from the lungs to various organs and transports carbon dioxide to the lungs. Thalassemia carriers have a condition in which this gene is unable to either make or produce less globin proteins, causing red blood cells to become pathological and are unable to maintain balance and lack flexibility. When they are incomplete red blood cells, they are often destroyed by the spleen resulting in anemia.
Given that thalassemia is a recessive genetic disease, those with the thalassemia gene on only one chromosome don’t show any symptoms and will only be carriers. Therefore, if children inherit this gene from either parent, they will just be a carrier. However, if they receive it from both parents, they will have thalassemia. The greater the number of abnormal genes, the more severe the thalassemia will be. Thalassemia can be divided into two main types:
· Alpha-Thalassemia
Serious carriers which may result in infant death in the womb or shortly after birth.
· Beta-Thalassemia
Carriers not severe enough to cause death but can cause the baby to be pale and yellow.
Symptoms of thalassemia
Thalassemia symptoms vary in severity depending on the type. There are three levels as follows:
· Thalassemia with mild to moderate severity
o In most cases, these children will have slight jaundice. Occasional blood transfusions may be required. If the disease is moderately severe, blood transfusions will be required every time the patient is sick.
o Those who have chronic conditions since childhood have weak health and get sick on a regular basis. Blood transfusions are required every month.
· Thalassemia with high level severity
o Babies begin to show symptoms from age 3-6 months.
o Babies will begin to show paleness, yellow eyes and yellow body similar to jaundice. Children will begin to have abnormal facial structure changes such as erect forehead, flat nose bridge, high cheekbones, wide chin and jaw, protruding teeth, slow growth, short stature, and iron overload.
o The level of symptoms continues to increase, requiring regular blood transfusions.
o If there are blood transfusions during pregnancy, the baby will have a normal face.
o Babies with this disease need long-term close care.
· Thalassemia with the highest level of severity
o The fetus will have edema, anemia, enlarged liver and spleen, ascites, large placenta, and difficult delivery.
o Death often occurs in the womb or shortly after birth.
o Pregnant mothers with thalassemia may have more pregnancy complications such as preeclampsia and high blood pressure, and it can be severe to the point of death during pregnancy.
Thalassemia treatment
Treatment for thalassemia depends on the type and severity of the case as well as on the discretion of the physician. It generally has the following treatment possibilities.
· Blood transfusion
o Suitable for patients with severe symptoms.
o Patients will receive blood through a tube inserted into the artery in the arm for a few hours.
o Frequency of blood transfusions depends on severity of symptoms.
o Patients with beta thalassemia must receive blood transfusions once a month.
o Patients with other types of thalassemia may need occasional blood transfusions.
o Caution: Blood transfusions may cause excess iron in the blood which can damage the heart, liver and other organs; it needs to be treated in conjunction with other methods to remove excess iron.
· Stem cell transparent
o Patients must receive stem cells from someone who is physically healthy and must have compatible stem cells (usually a sibling or parent).
o Patients will receive chemotherapy to destroy thalassemia-resistant bone marrow cells and connect the bone marrow, taking 1-2 months.
o Caution: This method may cause new stem cells that work against the patient's body; the transplanted cells destroy other cells – a life-threatening condition. Therefore, even if this method of treatment can cure, as it is highly risky, it is limited to severely ill patients.
· Removing excess iron
o Used to treat patients who have received blood transfusions and have excess iron.
o The method of eliminating excess iron is called chelation therapy.
o Chelation therapy begins after patients have received approximately 10 blood transfusions.
o The chelation process consists of three chelating agents, namely:
§ Deferroxamine Desferrioxamine (DFO) is given by a doctor as a slow subcutaneous injection through a pump, taking 8-10 hours, 5-6 times a week.
§ Deferipron (DFP): A doctor may administer this substance to patients as a tablet or liquid three times a day. Sometimes it may be used in combination with deferoxamine to reduce the number of injections.
§ Deferrazerox Deferasirox (DFX) is prescribed as a tablet that dissolves in water.
· Treatment of other symptoms – Other types of treatment for thalassemia include hormone therapy, vaccination, antibiotics, bisphosphonates, surgery on organs such as the spleen or gallbladder, folic acid, and others.
However, if patients are under supervision of a doctor and strictly follow their prescription, they will be able to control the symptoms or reduce the severity of the disease until they can continue their daily life as usual.
Thalassemia can be prevented by family planning
If it is not known whether one or one’s partner are carriers of thalassemia, it can be prevented by screening the couple planning to have a baby prior to pregnancy. The best protection is to undergo a pre-pregnancy screening to determine whether either party is a carrier of thalassemia and accept the advice of a doctor how to adjust one’s lifestyle accordingly. Screening is used for all four types of latent carriers; latent alpha-thalassemia, latent beta-thalassemia, latent hemoglobin, and homozygous hemoglobin E.
If thalassemia isn’t found or is only found in one party, there is little risk that the child will have severe thalassemia. However, if it’s found in both parties, the doctor's prescription should be closely followed. In vitro fertilization (IVF) can also reduce the risk of thalassemia developing in the baby as the doctor will, as a matter of course, check the externally-fertilized embryo cells for the disease. This way we know if the baby is likely to have thalassemia or not. If no thalassemia is found, it can be re-implanted in the mother's uterus ensuring safe pregnancy.
Although thalassemia is high-risk and potentially life-threatening, passing it on to children can be prevented if the parents get screened for genetic diseases before proceeding with their plan to have children. A bright family future remains the most likely outcome.
Krungthai-AXA Life Insurance customers eligible to participate in the Krungthai-AXA Privilege PLUS+ program who plan to have children can access KTAXA Wellness Teleconsultation service. For more information, please visit: https://www.krungthai-axa.co.th/th/WellnessConsultation.
References
· King Chulalongkorn Memorial Hospital, Thai Red Cross Society
http://bit.ly/3ASyPzr
· Pobpad website
http://bit.ly/3u39WgC
· Nakornthon Hospital
http://bit.ly/3u6AzRL
· Synphaet Serirak Hospital
http://bit.ly/3VrZJ92
Corporate Communication, Faculty of Medicine, Ramathibodi Hospital
http://bit.ly/3GWuQ93
