Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and severe anemia, starving organs of oxygen, which inhibits their ability to function properly. India has a huge burden with an estimated 100,000 patients with a β thalassemia syndrome Two types of Thalassemia
Thalassemia can occur in two forms: α-Thalssemia and β-Thalassemia. This is due to different mutations on the numerous genes involved in hemoglobin production. αThalssemia is caused by having at least one mutated α-globin gene. On the other hand, β-Thalassemia is triggered when the β-globin genes show some type of abnormality.
Thalassemia is classified into two degrees of severity. This is determined by the number of genes that are mutated in the patient. Out of the four genes that are involved in the production of hemoglobin, 1or 2 mutations are classified as Thalassemia-minor. Consequently, 3 or 4 mutations result in Thalassemia- major. Thalassemia is a serious medical condition. If left untreated, it can result in medical complications that may lead to death.
Thalassemia is a serious medical condition. If left untreated, it can result in medical complications that may lead to death. If you and your partner both have thalassemia trait, for each pregnancy, there is a:
• 25 percent chance that the child will have thalassemia disease.
• 25 percent chance that the child will have normal hemoglobin levels.
• 50 percent chance that the child will have thalassemia trait.
Blood testing is the most commonly used method to test an individual with Thalassemia. These blood tests are conducted to analyze various characteristics of the blood.
Characteristics that can be revealed using blood tests include:
- Red blood cell levels in the blood
- Size of red blood cells
- Shape of red blood cells
- Color of red blood cells
- Hemoglobin distribution in red blood cells
- Iron level in the blood
Hb Electrophoresis is helpful in quantifying disease
Genetic testing confirms the disease
In addition, pre-natal testing can be done before a baby is born in order to determine the severity of thalassemia beforehand. Chorionic Villi Sampling is one form of pre-natal testing that can be done around the 11th week of pregnancy. This test involves the removal of a small portion of the placenta and analyzing it. Amniocentesis is the second type of pre-natal testing that is conducted during the 16th week of pregnancy. For this test, a small sample is taken of the fluid that surrounds the fetus.
Treatments for this condition differ depending on the severity of the patient’s condition. Common treatments include regular blood transfusion and the prescription of medication. In more severe cases, bbone marrow transplants, splenectonomy (surgical removal of the spleen), and cholecystectomy (surgical removal of the gallbladder) are performed to relieve the symptoms.
Transfusion Therapy
Transfusion is a process where healthy red blood cells, which do contain the needed protein, are added into a person’s veins. These transfused red blood cells help to more effectively carry oxygen and give the patient more energy. Regular transfusion enables the patient’s blood-producing system to operate at a more normal level. Once transfusions begin in a child with thalassemia major, it is generally desirable to maintain pre-transfusion hemoglobin levels of between 9 and 10g/dL.
challenges associated with transfusions
Iron overload
Bloodborne infections
Transfusion reactions
Chelation Therapy
The goal of chelation therapy is to maintain the total body iron load in a near-normal range. This requires accurate measurements and expert medical management of each patient’s iron load. Stem Cell Transplant/Bone marrow Transplant (BMT)
However, transfusions and chelation therapy do not cure the condition. A cure means that the genetic defect that causes the anemia has been corrected and that patient’s body begins producing healthy blood cells. There are some curative approaches available that is a stem cell transplantation. The idea is to find a way to get the patient’s body to make red blood cells — the kind with the protein that the patient is currently missing. In stem cell transplantation, that happens by giving the patient new stem cells.
These stem cells are special cells that, in this case, are in charge of creating the blood cells. So, when a person has a stem cell transplantation, it,s like they are making a change in their body that will help them make healthy red blood cells.
Primary through tertiary care for children and adults.
Blood transfusion, Chelation and Stem cell transplantation
Education, outreach and genetic counseling.
Psychosocial services for patients, families and those at risk for carrying the disease.
Nutrition education.