Thalassemia

Best Thalassemia Treatment in Hyderabad, India

Thalassemia is a type of inherited blood disorder. In this disease, your body has fewer haemoglobins than the average amount. The primary function of haemoglobin is to help the red blood cells carry oxygen. Anaemia is caused by Thalassemia, which leaves the patient very fatigued.  

The symptoms of Thalassemia can vary from mild to severe depending on the type of Thalassemia. If a person suffers from mild Thalassemia, then treatment might not be necessary. A few more severe forms of Thalassemia might require treatment in the form of blood transfusions. If you choose a healthy diet and exercise regularly, then these would be the perfect steps to help you cope with the fatigue of Thalassemia. The most common symptom of Thalassemia is mild to severe anaemia, characterised by a low count of red blood cells or haemoglobin. Pale skin and a constant feeling of tiredness are a result of anaemia. Bone problems can also ensue from anaemia. Other symptoms are yellowish skin, an enlarged spleen, and dark urine. In children, slow growth may be a characteristic of Thalassemia. 

As we have discussed, Thalassemia is a genetic disorder, and it is inherited from one’s parents. Mainly, Thalassemia is divided into two main categories- alpha-thalassemia and beta-thalassemia. The diagnosis for Thalassemia includes mainly blood tests as Thalassemia is a blood disorder.

Types of the Disease

Haemoglobin is that substance in your body that helps the red blood cells to carry oxygen. DNA cells that make the haemoglobin undergo mutations, which result in Thalassemia. These DNA mutations associated with Thalassemia are generally passed down from the parents to the children.  

If anyone suffers from Thalassemia, there are two kinds of chains that make up the haemoglobin molecules that can be affected by the mutations that cause Thalassemia. These chains are known as the alpha chain and the beta chain. Either the production of the alpha chains or the production of the beta chains is reduced. This results in either alpha thalassemia or beta-thalassemia.  

Alpha thalassemia has several levels of severity. This level of severity you have of Thalassemia depends on the number of genes mutated that you inherit from your parents. The more mutated genes you have, the more severe your Thalassemia is. 

In Thalassemia, various parts of haemoglobin molecules are affected. So, in the case of beta-thalassemia, the severity of the disease depends on which part of the haemoglobin molecule is affected.

Alpha-thalassemia

There are a total of four genes that are involved in making the alpha haemoglobin chain. You acquire two chains from each of your parents. 

• If one of your genes is mutated, you will not show any signs and symptoms of Thalassemia. This situation makes you a carrier of the disease, and you will be able to pass it down to your children.

• If two of your genes are mutated, then the signs and symptoms of your Thalassemia will be very mild. Alpha thalassemia trait is the name given to this condition.  

• If three of your genes are mutated, your signs and symptoms will range from moderate to severe. 

• The inheritance of four mutated genes is extremely rare, and generally, this results in stillbirth. Otherwise, if they survive, they will be in need of lifelong transfusion therapy. In a few cases, which are very rare, if a child is born with this condition, then they can be treated with a stem cell transplant or transfusions.

Beta-thalassemia

There is the involvement of two genes in the making of the beta haemoglobin chain. One each is inherited from each parent. This is how the inheritance works:- 

• If one of the genes is mutated, you will show very mild signs and symptoms. The condition is known as Thalassemia minor or referred to as beta-thalassemia. 

• If you have two genes that are mutated, the signs and symptoms that you will show will be moderate to severe. The condition is known as thalassemia major or also referred to as Cooley anaemia. 

• The babies who are born with two defective beta haemoglobin genes are generally born healthy. They gradually develop the signs and symptoms within two years of their birth. Another milder form of Thalassemia, known as thalassemia intermedia, can also be a result of two mutated genes. 

Causes

Hemoglobin is made up of four protein chains, comprising two alpha globin chains and two beta globin chains. These chains, both alpha and beta, inherit genetic information or genes from your parents, functioning as the "code" or instructions that regulate each chain and, consequently, hemoglobin. If any of these genes are flawed or absent, it results in thalassemia.

The alpha globin protein chains are governed by four genes, with two inherited from each parent. Meanwhile, beta globin protein chains have two genes, one from each parent. The type of thalassemia one experiences is determined by whether the genetic defect is present in the alpha or beta chain. The severity of the condition is dictated by the extent of the genetic defect.

Symptoms

Your experience will be influenced by the type and severity of thalassemia you have.

• No Symptoms: If you lack one alpha gene, you are likely to be asymptomatic. Having a deficiency of two alpha genes or one beta gene may also result in an asymptomatic condition, or you might experience mild anemia symptoms such as fatigue.
• Mild to Moderate Symptoms: Beta thalassemia intermedia may lead to mild anemia symptoms or more moderate symptoms like growth issues, delayed puberty, bone abnormalities (such as osteoporosis), and an enlarged spleen. Surgical intervention, such as spleen removal, may be necessary if the spleen becomes too large.
• Severe Symptoms: The absence of three alpha genes (Hemoglobin H disease) typically causes anemia symptoms from birth and results in severe, lifelong anemia. Beta thalassemia major (Cooley's anemia) manifests severe anemia symptoms usually noticeable by age 2. Symptoms include those associated with mild to moderate disease, along with additional indicators such as poor appetite, pale or yellowish skin (jaundice), dark or tea-colored urine, and irregular facial bone structure.

Risks Associated with The Disease 

• Iron overload: An overload of iron is generally seen in the bodies of patients suffering from Thalassemia. This occurs either from the disease itself or from regular blood transfusions. As good as iron is for the body, too much iron can hurt your system. An iron overload can cause damage to the liver, heart, endocrine system, and so much more. This damage occurs due to the excessive deposit of iron. This can become fatal if it is not treated through adequate iron chelation therapy. 

• Infection: People with Thalassemia have an increased risk of infection. This is especially true if the spleen has been removed.

• Bone deformities: The bone marrow expands as an effect of Thalassemia. This causes the bones to widen. The bone structure of the face and the skull gets affected by this. They get abnormal bone structures. Another side effect of bone marrow expansion is that it makes the bones brittle and thin. This increases the risk of broken bones. 

• Enlarged spleen: The function of the spleen is to aid in filtering unwanted materials and fighting infections. The spleen helps in filtering old and damaged blood cells. In Thalassemia, a huge number of red blood cells get destroyed. The task of removing such a large number of cells continuously causes the spleen to grow in size. This can also reduce the life of the blood cells that are transfused. Sometimes, the spleen becomes so large that its removal becomes a necessity.  

• Slowed growth rates: The growth of a child gets slowed down when he or she suffers from anaemia. The time for puberty also gets delayed in children who are suffering from Thalassemia. 

• Heart problems: Congestive heart failure and abnormality in heart rhythms are diseases that are most often associated with severe Thalassemia. 

Risk Factors Related to the Disease

• Family history of Thalassemia- Thalassemia is a genetic disease. It is generally passed down from the parents. Hence, if one has a family history of Thalassemia, then they are at an increased risk of developing Thalassemia.

• Certain ancestry- It has been observed through research that Thalassemia is more prevalent in African American people of Southeast Asian descent and in Mediterranean people. 

Diagnosis

Moderate and severe forms of thalassemia are typically identified during childhood because symptoms tend to emerge within the initial two years of a child's life.

To diagnose thalassemia, your healthcare provider may conduct various blood tests:

• A comprehensive blood count (CBC) encompassing measurements of hemoglobin and the quantity (as well as size) of red blood cells. Individuals with thalassemia exhibit a lower count of healthy red blood cells and reduced hemoglobin compared to the norm, and their red blood cells may also be smaller than usual.
• A reticulocyte count, which gauges the number of young red blood cells, can indicate whether your bone marrow is producing an insufficient amount of red blood cells.
• Iron studies help discern whether anemia is due to an iron deficiency or thalassemia.
• Hemoglobin electrophoresis is employed for the diagnosis of beta thalassemia.
• Genetic testing is utilized to diagnose alpha thalassemia.

Complications Related to the Disease

Possible complications of moderate to severe Thalassemia include:

• Iron overload- As we have discussed before, under symptoms, Thalassemia increases the amount of iron in one’s body. This happens due to the disease or due to the several blood transfusions required to treat this disease. This iron overload in your system can lead to damage to your liver, heart, and endocrine system.

•  Infection- An increased risk of disease is always there in people with Thalassemia. If you get your spleen removed due to Thalassemia, then the risk of infection increases. 

There are some other complications that occur only in the case of severe thalassemia:

• Bone deformities- Thalassemia can also increase the size of your bone marrow. This, in turn, results in the widening of your bones. This bone widening can lead to an abnormal face structure, especially in the skull and the face. The expansion of bone marrow also makes the bones brittle and thin. This increases the risk of broken bones.

•  Enlarged spleen- The function of the spleen is to help your body fight infection and filter materials that are unwanted. These materials include old blood and damaged blood. As we know, Thalassemia causes the destruction of a huge number of red blood cells. Due to this, your spleen gets enlarged and has to work more than normal. 

Your anaemia can get worse if you have an enlarged spleen. Surgery to remove the spleen might be suggested by your doctor if it gets too big. This can also reduce the life of the red blood cells that are transfused. 

• Slowed growth rates- A child’s growth rate and puberty gets delayed if they have anaemia. 

• Heart problems- Abnormal heart reasons and failure of the heart due to congestion can be related to severe Thalassemia. 

How can CARE Hospitals Help?

Knowing all about the disease can be overwhelming at times. But there is nothing to worry about. Any disease you have, the CARE Hospitals have you covered. With our state-of-the-art structure, amazing staff, and qualified doctors, the patients are in the best hands. So, if you are worried about any disease, contact the CARE Hospitals right now.