Blood disorders are many and varied in type and in prevalence which is inconsistent around the world. Hemoglobinopathy and thalassemia are well known blood disorders with Asian countries having a greater degree of sufferance than other countries around the world. Some studies have shown that in Asian countries up to 30% of the population are carriers of these disorders. Being aware of the region’s high level of carriers, Samitivej Hospital has a dedicated Thalassemia and Hematology Center.
What is Hemoglobinopathy and Thalassemia
Thalassemia was first recognized in 1925 and was originally referred to as Mediterranean Anemia. Its early reference was drawn from the geographical region in which it was first pinpointed. An American physician studied children in Italy that were suffering from extreme anemia. The children exhibited poor growth, enlarged abdominal organs, and death in early childhood. It was in 1946, that an abnormal hemoglobin structure was identified as the cause of thalassemia.
Hemoglobinopathy and thalassemia are genetic disorders. The cause of these disorders is anomalous hemoglobin. Although the two disorders are connected, their roots differ. The cause of thalassemia is due to a reduced or nonexistence of the synthesis of globin peptide chains. On the other hand, the cause of hemoglobinopathy is due to a dissentient modification of the globin peptide chain conformation.
There are two forms of thalassemia Alpha and Beta. The condition is hereditary and some people inherit, from a single parent, an alpha-thalassemia or beta-thalassemia gene. That person will then be a carrier of alpha-thalassemia, a beta-thalassemia carrier, a hemoglobin E carrier or a carrier of hemoglobin Constant Spring (Hb CS).
Some unfortunate people inherit the faulty gene from both parents, be they alpha or beta thalassemia, and this will result in them suffering with thalassemia, this can be one of four types, hemoglobin H disease, hemoglobin Bart’s disease, beta-thalassemia or hemoglobin E beta-thalassemia disease.
Diagnosis at Samitivej Hospital
At their modern, well equipped Hemoglobinopathy and Thalassemia Center their expert team, headed up by Prof. Suradej Hongeng, MD, will diagnose and pinpoint the exact form of thalassemia in the young, symptoms are prevalent within the first two years of life. This is achieved via blood tests which expose the number of red blood cells along with any abnormalities, these could be in color, shape or size. The blood tests will also expose any mutated genes through DNA analysis.
Additionally, testing can be undertaken in the unborn child. A chorionic villus sample can diagnose the disease. This is where a small piece of the placenta is taken for evaluation, and would normally be carried out at around the eleventh week of pregnancy. Alternatively, diagnosis can be carried out by amniocentesis. This is done by examining a sample of fluid that surrounds the fetus and would typically be carried out at the sixteenth week.
Samitivej Hospital’s Treatment for Hemoglobinopathy and Thalassemia
It should be noted that mild forms of thalassemia will not need treatment. Moderate or severe levels of thalassemia are expertly treated by the world class team at Samitivej Hospital. There are three forms of treatment that would normally be adopted to treat thalassemia.
Chelation therapy is a treatment which removes excess levels of iron in the blood. Regular blood transfusions can lead to a build-up of iron. It is also possible to have excess iron in the blood in a patient that does not undergo blood transfusions. It is essential that the excess of iron is removed to maintain a patient’s health. Oral and injected drugs can also be part of a patient’s treatment plan to reduce the levels of iron in the blood.
For sufferers of more severe forms of thalassemia the specialist may prescribe regular and frequent blood transfusions, possibly every two or three weeks. The treatment by regular blood transfusions would normally be combined with chelation therapy to reduce the risk of damage to the bodies vital organs.
Probably the most advanced treatment for thalassemia is stem cell transplant sometimes referred to as a bone marrow transplant. Although stem cell transplants are considered a modern treatment the procedure dates back to 1972 when Edward Donnall Thomas conducted the first successful bone marrow transplant.
Today, stem cell transplants have advanced exponentially and the procedure is now virtually unrecognizable from as it was in 1972.
The treatment involves Samitivej’s skilled team infusing into the patient stem cells from a compatible donor, suitable donors are very often found to be that of the patient’s siblings. For a child suffering with severe thalassemia a stem cell transplant can rid them of the need for an alternative, lifelong treatment and drugs.
Generally speaking, you cannot prevent thalassemia. However, if you know you have thalassemia, or if you carry a thalassemia gene, it is essential that advice is sort from Samitivej Hospital’s genetic experts should you wish to have children. Informed choices can then be made on the back of expert, sound knowledge and advice.
You may then wish to opt for a reproductive technology diagnosis. This procedure is able to screen an embryo during its early stages for any genetic mutations prior to in vitro fertilization. This can assist thalassemia sufferers or carriers of a defective hemoglobin gene to have strong healthy babies.
The procedure is straight forward, mature eggs are retrieved and fertilized in a dish under laboratory conditions. The embryos can then be tested for any defected genes. Then, only those eggs that show no defects can be implanted into the woman’s uterus.
The team of professionals at Samitivej Hospital’s Thalassemia and Hematology Center not only expertly diagnose and treat those suffering with thalassemia and help those wishing to start a family, but also give expert advice on lifestyle and self-help. Although there is no home cure for the condition there is much an individual can do to help in their own wellbeing.
Typical advice that the Samitivej experts will give may include the avoidance of excess iron. Unless they otherwise recommend they will advise against taking any supplements that contain iron. They may advise folic acid supplements which assist the body in making red blood cells. Diet is all important and every patient will be advised to eat healthily. Keeping the bones strong and healthy with a diet rich in calcium is advisable.
Having thalassemia need not be as daunting as it seems. Leading a full and active life is entirely possible for all sufferers of the condition. With expert diagnosis, advanced treatments and a patient support team second to none, Samitivej Hospital’s patients enjoy life to the full.