Thalassemia is a congenital blood disorder that affects the body’s ability to produce haemoglobin, a red blood cell protein normally. Haemoglobin enables the red blood cells to transport oxygen throughout the body, thus nourishing the other cells of the body. In people with thalassemia, the body forms less healthy haemoglobin proteins and the bone marrow forms fewer healthy RBCs.
The condition where there are fewer red blood cells in the body is called anaemia. As RBCs play an important role in delivering oxygen to the body tissues, not having enough healthy RBCs can deprive the cells of your body of oxygen they require to thrive and produce energy.
Thalassemia can give rise to mild or severe anaemia and other complications over time. Symptoms of anaemia include trouble breathing, fatigue, dizziness, feeling cold, pale skin, and dizziness.
Gene mutations causing thalassemia arose in humans as a way of protection against malaria. Therefore, thalassemia affects those having ancestral links to parts of the world where Malaria is common. Thalassemia is an inherited condition, meaning that it can be passed from parents to children.
Haemoglobin has four chains of protein - two beta globin chains and two alpha globin chains. Each chain contains genetic information that is passed down to generations. If any of the genes are abnormal, missing, or defective, thalassemia occurs.
The thalassemia you are suffering from depends on whether your beta or alpha chain has the genetic defect. The defect’s extent will determine how complicated your condition is.
Thalassemia is divided into minor, trait, major, and intermedia to describe how complicated the condition is. These represent a range where possessing a trait of thalassemia means that you may have symptoms of mild anaemia or no symptoms at all. The most serious form of thalassemia is thalassemia major and it usually demands regular treatment.
Thalassemia is of two types - beta thalassemia and alpha thalassemia. These are named on the basis of the defects in these chains.
The four genes that make up the alpha protein chains are inherited from parents, two from each parent. If one or more genes are defective, you develop alpha thalassemia. The number of abnormal genes determines whether or not the person will exhibit symptoms of anaemia or not and how severe the symptoms will be.
If you have one missing or defective alpha gene, you won’t have any symptoms. This condition is also called alpha thalassemia minima. If you have two defective alpha genes, you will experience symptoms but those will be mild. This condition is also called alpha thalassemia minor. If you have three missing or defective genes, you will have moderate to severe symptoms. This condition is also called Haemoglobin H disease. Those with four missing or defective genes usually don’t survive. If a person like this even survives, they will need blood transfusions lifelong. This condition is also known as Hydrops Fetalis with Haemoglobin Barts.
Two beta-globin genes are inherited, one from each parent. The severity of your symptoms is determined by the number of defective genes and the part of the beta-globin chain that carries the defect.
If you have only one missing or defective beta gene, you will have mild symptoms. This condition is also called beta thalassemia minor. If there are two missing or defective beta genes, your symptoms will be moderate to severe. Sometimes a severe form of beta thalassemia occurs with two gene mutations. It is known as beta thalassemia major or Cooley’s anaemia.
The symptoms of thalassemia depend on its type and severity.
If you are missing one alpha gene, you will likely be asymptomatic. If you don’t have one beta gene or are missing two alpha genes, you may not have any symptoms or have very mild symptoms such as fatigue.
Beta thalassemia intermedia may lead to mild symptoms of anaemia. It may even result in the following symptoms linked with a more moderate disease:
For skeletal problems, you may eventually need surgery. If your spleen grows too large, it may need to be removed.
Severe symptoms of anaemia are seen at birth if three alpha genes are missing and it results in severe lifelong anaemia. Cooley’s anaemia or beta thalassemia major often results in severe symptoms of anaemia that are noticeable by the age of 2.
Severe anaemia symptoms include those linked with moderate to mild disease. Additional symptoms may include yellowish or pale skin, poor appetite, irregular facial bone structure, and dark or tea-colored urine.
Thalassemia (moderate and severe) is usually diagnosed in childhood as the symptoms are often seen within the first two years of life. Your doctor may recommend some blood tests to establish the diagnosis:
The main treatment modalities for thalassemia major are iron chelation and blood transfusions.
During blood transfusions, red blood cells are injected via a vein to restore normal levels of haemoglobin and healthy RBCs. If you have moderate to severe thalassemia, you will likely receive blood transfusions every four months. However, those with beta thalassemia major receive blood transfusions every two to four weeks. More frequent blood transfusions are required for beta thalassemia intermedia or haemoglobin H.
Iron chelation therapy refers to removal of excess iron from the body. A side effect of blood transfusions is that they can result in an iron overload. Excessive amounts of iron may damage organs. Therefore, iron chelation therapy is often given to those receiving frequent blood transfusions.
Folic acid supplements are also given sometimes to help the body produce healthy blood cells.
The only definitive treatment for thalassemia is a stem cell and bone marrow transplant from a compatible related donor. A donor is said to be compatible when he has the same types of human leukocyte antigens (a type of proteins) as the recipient. During the procedure, the doctor injects bone marrow stem cells from the donor into the recipient's bloodstream. The transplanted bone marrow stem cells start making new, healthy blood cells within approximately one month.
One of the main complications of thalassemia is iron overload, which occurs as a result of the disease itself or frequent blood transfusions. Excessive amounts of iron can result in damage to the liver, heart, and endocrine system. The endocrine system consists of glands that produce hormones regulating metabolic processes throughout the body.
If you receive a lot of blood transfusions, you may also get frequent severe infections. The infections may spread through the bloodstream while you receive a transfusion. This is usually preventable as the donor blood is screened extensively during transfusions.
Thalassemia can’t be prevented but genetic testing can be done to determine whether you or your partner has the gene. This information will help you decide on your future pregnancy and conception plans accordingly.
If you are located in Indore and suspect that you or your partner may carry gene mutations for thalassemia, you can visit the Thalassemia Clinic at Kokilaben Dhirubhai Ambani Hospital, Indore and get an appointment with an expert doctor who will guide you to the next step.
The best way to cure thalassemia is by transplanting bone marrow from a compatible donor or sibling. However, most patients with Thalassemia unfortunately can’t arrange a suitable sibling donor. If you are suffering from Thalassemia, you can speak to a Thalassemia specialist at our clinic to determine whether you are a candidate for a bone marrow transplant and whether the procedure will be safe for you.
Those with mild thalassemia have a normal life expectancy. There is a good chance of long-term survival even with moderate to severe Thalassemia if you follow your treatment program.
The leading cause of death in patients of thalassemia is heart disease resulting from iron overload. Therefore, it is very important to keep up with your iron chelation therapy.
Thalassemia is a complex but treatable disease. The symptoms, preferred treatment approach, and how often you will need treatment depends on the severity of the disease. You have the complete right to ask your doctor all questions regarding your condition and seek necessary care. If you suspect that you or your partner may have Thalassemia, you can seek advice from a genetic counsellor. If you are located in Indore, you can visit the Thalassemia Clinic at Kokilaben Dhirubhai Ambani Hospital. The medical staff at our clinic is highly qualified and has years of experience in the field. Our goal is to provide the best possible medical treatment and care to all our patients and deliver optimum medical attention at all times.