What is Thalassemia ?
Thalassemia is a blood disorder caused by genetic factors and protein in the red blood cells or hemoglobin do not function normally. Red blood cells contain hemoglobin which serve to deliver oxygen from the lungs to the whole body. Patients with thalassemia have low hemoglobin levels to function properly. Therefore, the level of oxygen in the body of patients with thalassemia is low.
Here are some symptoms that can be experienced if the body lacks oxygen:
- Easy sleepy
- Breathing difficult
Complications may occur due to thalassemia if it is not treated immediately :
- Stunted growth
- Heart failure
- Damage to organs in the body
- Liver disease
- It can result death due to complications of severe thalassemia.
Symptoms of thalassemia which is experienced by every person can be different depending on the severity and type of thalassemia. Hemoglobin requires protein alpha and protein beta to function properly. Abnormalities in the protein alpha is thalassemia alpha. Abnormalities in the protein beta is called thalassemia beta. This disease occurs due to abnormalities in genetic factors, but the exact cause is not yet known.
A blood test can be done to diagnose thalassemia. However, doctors have to do a DNA test to determine the type of thalassemia. A blood test can be used to evaluate hemoglobin and measured the amount of iron contained in the blood.
Thalassemia can be treated with the two treatment methods by transfusion of umbilical cord blood and bone marrow transplantation. However ,treatment method is not suitable for all patients with thalassemia and can cause a number of complications. Blood transfusion is routinely required for patients with thalassemia beta, but it can lead to the buildup of iron in the body and cause serious health problems. Treatment to get rid of the iron excess in the body can be done with chelation therapy.
The risk of developing the complications of thalassemia can be reduced by conducting routine health checks. Some of the possible complications of thalassemia that can happen is hepatitis, osteoporosis, delayed puberty and disturbances in heart rhythm.
The symptoms of thalassemia experienced by each person can vary depending on the severity and type of thalassemia.Common symptoms of thalassemia are :
- Urine is cloudy
- Face looks pale
- Deformities of the facial bones.
- The skin and the eyes are colored white to yellow or commonly known as jaundice.
- The abdomen becomes swollen,it is usually caused by enlargement of the spleen or liver.
- Lack of red blood cells or anemia cause tightness of breath feeling.
- Body gets easily tired
- Inhibits growth of the body.
A newborn has a different hemoglobin from normal hemoglobin which is called fetal hemoglobin. Normal Hemoglobin replaces fetal hemoglobin after the baby is six months old. That’s why most babies are born with thalassemia will experience symptoms after they are six months old upwards. Deficiency of hemoglobin in children patients with severe thalassemia will make the body produce bone marrow more than usual. This is the body’s way of trying to cope with the shortage of hemoglobin.
In addition, to produce more hemoglobin, body will absorb more iron from consumed food or through blood transfusions that can result in a buildup of iron in the body. This could potentially pose some problems as follows:
Body growth during puberty will be delayed or will not occur at all due to disruption of hormonal systems in the body.
Soft tissues which are more prone to infection will be damaged , especially , spleen and liver.
This disease occurs due to genetic factors but exact cause why mutation of this gene occurs is not known.
Countries hit by an outbreak of malaria such as; Asia, sub-Saharan Africa, the Middle East, Cyprus, Italy, and Greece have more frequent cases of genetic blood disorders, such as thalassemia and sickle cell anemia.
A blood test can be done to diagnose thalassemia.However,doctors have to do a DNA test to determine the type of thalassemia. The results of blood tests are performed to check for thalassemia includes several things such as the following:
- Red blood cells are pale.
- Red blood cells levels are low.
- The shape and size of red blood cells is diverse.
- Red blood cells are smaller than usual.
A blood test can also be used to evaluate hemoglobin and measures the amount of iron contained in the blood. In addition, the blood test can be done to analyze the DNA in order to check the type of thalassemia.
Tests are done during pregnancy to provide useful information to determine and check for the presence of other genetic diseases, such as sickle cell anemia.
Antenatal have three methods :
- The first method is the examination of cells from a sample of amniotic fluid that is usually done when the content was 15-20 weeks and it is called ‘’amniocentesis’’.
- The second method is the examination of cells from a sample of the placenta or chorionic villus sampling, and is usually done when the content was 11-14 weeks.
- The third method is the examination of a little sample of the blood of the fetus of the baby which is taken from the umbilical cord or venous the umbilicus.
There is one method that can be performed by couples who want to have children but method has tendency to pass on a genetic disease to the baby. The method is called preimplantation genetic diagnosis, which move the eggs from the ovaries of women and fertilize it with sperm in the laboratory. Inspection is carried out on embryos that are already fertilized to determine whether there is thalassemia and healthy embryos can be implanted into a woman’s uterus.
The type and severity of thalassemia will which treatments can be done. Usually, minor thalassemia patients have mild symptoms and do not require special care. However, blood transfusions are usually necessary to help overcome the complications of thalassemia after childbirth or after performing the operation.
Excess iron in the blood can be treated with chelation therapy. It is aimed to prevent damages to organs of the body that are widespread, such as the liver, hormone glands of the body and heart due to the buildup of iron in the blood. Usually children who have received a blood transfusion about 15 times require chelation therapy. The frequency of chelation therapy will be assessed regularly and may be changed but this treatment lasts a lifetime. There are currently three chelation agents or drugs used in chelation therapy are deferiprone, deferasirox, and desferrioxamine.
Tests to measure iron levels can be done with a blood test.
Abiopsy of the liver and an MRI scan can be done.
To monitor whether chelation therapy is effective, examination of the levels of iron in the blood is done routinely.
Thalassemia possibilities can be cured by two methods of treatment as will be described below.
Cord Blood Transfusion
This is a method of treatment of thalassemia is relatively new. One study showed a success rate of this method is almost 80 percent. This method has advantages over bone marrow transplantation which the risk of between donor and recipient are lower. A child with thalassemia can accept donations of umbilical cord cells when own mother is pregnant again a child who does not suffer from thalassemia. Umbilical cord cells were used to produce healthy bone marrow in patients with thalassemia so that red blood cells function healthy.
Bone Marrow Transplantation
Treatment to cure thalassemia is possible by performing a bone marrow transplant. Unfortunately, bone marrow transplantation may increase a person’s risk of seizures, tumors, and stroke. That is why the treatment of thalassemia with bone marrow transplant is only done if patient’s condition is severe.It should be discussed with the family. In addition, there is the risk that the bone marrow donor is not suitable with the body of patients with thalassemia who receive it and can causes reactions such as the following :
- Skin – rashes on the body
- Liver – jaundice
- Digestive system – stomach pain, diarrhea and blood in the stool
Children who are under 16 years old have a chance of success and survival is greater because of organ damage is not too severe. In addition, children who receive bone marrow from a donor siblings who have the same type of gene networks also have a greater chance of success in performing a bone marrow transplant.It is also very difficult to find a suitable bone marrow type for patient.
Risk factors that determine the level of success of a bone marrow transplant.These are severe liver damage, high iron levels in the body and magnitude of the liver organ.
Here is the possibility of the success of children aged under 16 years get a suitable bone marrow donor:
- Patients have the chances of success are 90 percent and 95 percent chance of survival, if they do not have the risk factors mentioned above.
- Patients have chances of success above 80 percent and over 85 percent chance of survival, if they have less than three risk factors.
- Patients have chances of success above 55 percent and a nearly 80 percent chance of survival, if they have three risk factors.
Most patients with beta thalassemia may develop complications. It can be diagnosed by routine screening. Here are some of the complications that can occur in patients with thalassemia.
Heart damage due to too much iron can cause a decrease in cardiac pumping strength, heart failure, arrhythmia or irregular heartbeat and fluid accumulation in heart tissues. There are some routine checks that should be performed patients with thalassemia beta. Treatment to improve cardiac function can be done with chelation therapy and with medicines.
Complications On Tthe Bone
The bone marrow will develop and affect body’s bone due to deficiency healthy red blood cells. Bone complications may occur as follows:
- Joint pain and bone pain
- Bone deformities
Fracture risk increases if the bone density to be low. It can even affect people who get blood transfusions regularly. That is why patients with thalassemia beta are advised to take supplements of vitamin D and calcium.They are also advised to eat foods rich in vitamin D and calcium such as the following:
- Orange juice
There are several ways to help strengthen bones and prevent osteoporosis which are :
- Aerobic gymnastics
- Lifting weights
Bisphosphonates can be consumed to maintain bone density and reduce fracture risk, but these drugs can affect the growth of normal bone. Therefore this drug is not recommended for consumption by children and adolescents.
Enlargement Of The Spleen (Splenomegaly)
Spleen enlargement occurs because the spleen is difficult to recycle blood cells which have abnormal shape and result in the increased amount of blood in the spleen.This makes spleen grow larger.
Complications On The Liver
Too much iron can lead to the occurrence of some things, such as fibrosis or enlargement of the liver, cirrhosis of the liver or chronic degenerative disease in which cells of the normal liver become damaged, then replaced by scar tissue, as well as hepatitis. Therefore, patients with thalassemia are recommended to check liver function every three months. Prevention of infection of the liver can be done by taking antiviral drugs. More severe liver damage can be done chelation therapy.
Complications In Gland Hormone
The hormone system is regulated by the pituitary gland which is very sensitive to iron.
- The thyroid gland – hyperthyroidism or hypothyroidism
- The pancreas – diabetes