Thalassemia is a common blood disorder that is passed down from parent to child. It affects the body’s ability to produce haemoglobin, a vital protein in your red blood cells that helps carry oxygen from your lungs to the rest of your body. Thalassemia can cause fatigue, weakness, and shortness of breath.
In this blog, we will discuss Thalassemia in detail, examining its symptoms, causes, treatment, and preventative measures. Knowing the ins and outs of this health condition is the first step in managing it.
What is Thalassemia?
Thalassemia is a genetic condition where the haemoglobin in the red blood cells is lower than usual. It’s an inherited condition, passing from parents to child, and so on. Haemoglobin is a protein in red blood cells that helps them transport oxygen from the lungs to other parts of the body.
Those affected by thalassemia have fewer red blood cells or have red blood cells of different shapes and sizes. Your body may not be able to produce enough haemoglobin. Thalassemia leads to anaemia, a condition that occurs due to a low red blood cell count. You need healthy red blood cells to carry oxygen throughout the body, which provides the energy that you need to thrive.
Causes of Thalassemia
Haemoglobin molecules are made up of four protein chains: two alpha globin chains and two beta globin chains. There is genetic information in each chain. Since thalassemia is a genetic condition, the genes are passed down from parent to child: two genes from each parent. Thalassemia occurs when one or more of these genes is defective or missing.
The alpha globin chains are formed with four genes, two from each parent. The beta globin chains are formed with two genes, one from each parent. The severity of the condition is decided by the number of defective genes. The type of thalassemia in a person is determined by the globin chains that are affected.
Types of Thalassemia
Thalassemia is classified according to its severity: trait, minor, intermediate, and major. A mild version of thalassemia can be asymptomatic or cause mild anaemia. Treatment may not be required. A severe form of thalassemia requires regular treatment.
Thalassemia has two distinct types: alpha thalassemia and beta thalassemia. Each type is named after the specific globin chain that is affected. Let’s take a closer look at these types.
Alpha Thalassemia:
The alpha thalassemia globin chain is made up of four genes, two from each parent. Alpha thalassemia develops when one or more of those genes is mutated or defective. Thalassemia is not caused by just one cell; rather, it is a collection of mutated genes that determine your risk of developing this condition. The larger the number of defective cells, the higher the risk. Let’s break down the severity levels a bit more:
- One defective gene: You may be asymptomatic in this case. This stage of severity is also called alpha thalassemia minima.
- Two defective genes: In this case, you will feel mild symptoms. It is also called alpha thalassemia minor.
- Three defective genes: Three defective genes substantially raise your risk of developing thalassemia. You may start experiencing moderate to severe symptoms. This condition is also called Haemoglobin H disease.
- Four defective genes: This is a severe form of alpha thalassemia, most likely to be fatal. Newborns that survive may need blood transfusions for the rest of their lives. This condition is also called hydrops fetalis with Haemoglobin Barts.
Beta Thalassemia:
Beta thalassemia occurs when you inherit two mutated genes in the beta-specific globin chain. One gene is inherited from each parent. Similar to alpha thalassemia, the risk percentage depends on the number of defective genes. Depending on the number of mutated genes, your symptoms will vary from mild to severe. Let’s look at a further breakdown.
- One defective gene: Much like in alpha thalassemia, this is a mild form of the condition. One defective gene may not present any symptoms. This condition is also called beta thalassemia minor.
- Two defective genes: Moderate to severe symptoms may begin occurring. A moderate form of this condition is called thalassemia intermedia, and the severe form is called thalassemia major.
Thalassemia Symptoms
There are several thalassemia symptoms, ranging from mild to severe. The symptoms are determined by the type of thalassemia you have and its severity. Let’s look at thalassemia symptoms based on these categories.
- Asymptomatic
This is on the milder side of the spectrum. With mild thalassemia, you may not experience symptoms at all, or you may experience mild symptoms. You may experience mild anaemia and fatigue. In asymptomatic cases, the person may be a carrier even if they don’t develop the condition.
- Mild to Moderate Symptoms
Beta thalassemia intermedia causes mild anaemia symptoms. Other symptoms include:
- Delayed puberty
- Growth problems
- Osteoporosis and other bone deformities
- Enlarged spleen
Surgery can correct skeletal problems. The enlarged spleen may be removed if it is too large.
- Severe Symptoms
Thalassemia severity is determined by how many genes are defective or missing. Severe alpha thalassemia, where three or more genes are defective, leads to anaemia symptoms right at birth. Severe thalassemia can cause long-term issues. Severe beta thalassemia causes anaemia symptoms that begin before the child is 2 years old. Other symptoms of severe thalassemia include:
- Dark urine
- Skeletal changes, like the bones in the face
- Loss of appetite
- Swelling in the stomach area
- Pale or yellowish skin
Thalassemia Tests & Diagnosis
Severe forms of thalassemia can be caught early, usually within the first two years of a child’s life. Given that thalassemia is a blood disorder, your healthcare provider will conduct multiple blood tests to determine the risk factors and the type of thalassemia. Let’s look at the type of tests the healthcare provider will conduct.
- Complete Blood Count
A CBC test measures haemoglobin count and the number and size of red blood cells. A thalassemia patient’s body produces fewer healthy red blood cells, and the haemoglobin count is lower than usual. The size and shape of the red blood cells in thalassemia vary; some are smaller than normal, and some vary in shape.
- Hemoglobin Electrophoresis
This blood test identifies and measures different types of haemoglobin in red blood cells. It is a valuable test that identifies and helps diagnose various diseases like sickle cell disease, thalassemias, and other hemoglobinopathies. The test can detect abnormal haemoglobin levels, which can affect oxygen supply to the rest of the body.
- Reticulocyte Count
A reticulocyte count test measures the number of immature red blood cells in your body. Your bone marrow produces millions of red blood cells per second. A reticulocyte count test assesses this function of the bone marrow. It is a crucial test in diagnosing blood disorders, like anaemia.
- Genetic Testing
Genetic testing can help determine the presence and type of thalassemia. Thalassemia is a genetic condition that is characterised by reduced or absent globin chains. Genetic testing can help understand the condition’s severity.
Thalassemia Treatments
There are a few ways to treat thalassemia. The most common are as follows:
- Blood Transfusion
Your healthcare provider will introduce healthy blood through a vein to restore the healthy RBC and haemoglobin levels. Depending on the severity of thalassemia you have, you will receive blood transfusions every few months or weeks. For moderate to severe thalassemia, the blood transfusion takes place every four months. For beta thalassemia major, the blood transfusion takes place every 2 to 4 weeks. Occasional blood transfusion is needed for haemoglobin H disease or beta thalassemia intermedia.
- Iron Chelation
Blood transfusions can introduce too much iron into your blood, causing an overload. Iron chelation refers to the procedure of removing excess iron from the blood. Even individuals with thalassemia who receive less frequent transfusions have a chance of developing excess iron. Removing the excess iron is crucial as it can cause damage to several organs, including the liver, heart, and pancreas.
- Bone marrow or stem cell transplant
This method of treatment may be the only “cure” for thalassemia. Your bone marrow is the source of healthy red blood cells. If that isn’t happening, transplanting the bone marrow may help. The donor and recipient must have the same types of human leukocyte antigens for the transplant to work. Healthy, functioning bone marrow is taken from the donor and injected into the recipient’s bloodstream. It takes roughly a month for new red blood cells to form.
- Folic Acid
Folic acid can help manage the symptoms of thalassemia. It may not be a cure, but it can help develop healthy red blood cells. Folic acid supplements are often used with other forms of treatment. You can particularly find folic acid supplements in the treatment plan for thalassemia intermedia. Folic acid supplements may also help prevent megaloblastic anaemia, a condition where the red blood cells are abnormally large and fewer in number.
Prevention & Genetic Counselling
Thalassemia isn’t preventable. It is a genetic condition, so if the parents have it, the children are at a high risk of inheriting it. While the condition is not entirely preventable, you can get genetically tested before conceiving. A genetic counsellor can tell you the risk of your children inheriting the condition.
Oftentimes, thalassemia major-affected persons use assisted reproductive technology, like in vitro fertilization (IVF). The sperm and egg are joined outside the body, thus starting the fertilization process and creating an embryo. Once the embryo is formed, healthcare providers can conduct genetic testing to check for genetic markers of thalassemia. If there are no markers, the embryo is planted into the uterus.
Some affected persons also go through a procedure called intrauterine insemination, in which sperm is taken from a donor whose genes do not indicate thalassemia, and it is placed inside the uterus, where the sperm joins an egg.
If you or a loved one has thalassemia and you are thinking of expanding your family, you can consult a healthcare provider who can guide you through the process.
Conclusion
Thalassemia is a prevalent condition, affecting millions each year. This condition actively disrupts the body’s production of healthy red blood cells. It can lead to anaemia and other health complications. It can cause fatigue, weakness, and in severe cases, it can cause organ damage. Thalassemia patients may require lifelong blood transfusions and other treatments, depending on the severity of the condition and the age at which a person is diagnosed. Thalassemia patients can live a relatively normal life while managing the symptoms. Understanding the condition can help you make informed decisions.
