Understanding Thalassemia

Introduction

Thalassemia is an inherited blood condition characterised by producing a rare type of haemoglobin by the body. Haemoglobin is the oxygen-carrying protein molecule in red blood cells. Anaemia is caused by the disorder’s excessive destruction of red blood cells. Anaemia is a disease in which the body loses adequate numbers of healthy red blood cells. Thalassemia is a genetic disease that requires at least one of your parents to be a carrier. A genetic alteration or the deletion of such primary gene fragments causes it. Thalassemia minor is a milder form of the condition. Two types of thalassemia are more severe than the other. At least one of the alpha-globin genes has a mutation or abnormality in alpha thalassemia. There are various subtypes of thalassemia in each of these forms. The severity of your symptoms and your prognosis will be affected by the type you have.

Major causes of thalassemia

Thalassemia is caused by a mutation or abnormality of one of the genes responsible for haemoglobin formation. This genetic abnormality is passed on from your parents to you. If only one of your parents is a thalassemia carrier, you may develop thalassemia minor, a mild type of disease. You won’t have any symptoms if this happens, so you’ll be a carrier. You have a higher risk of inheriting a more severe thalassemia type if both of your parents are carriers. People from Asia, the Middle East, Africa, and Mediterranean countries like Greece and Turkey are the most likely to have thalassemia.

Symptoms of thalassemia

A variety of symptoms can be seen with people suffering from thalassemia.The following are a few of the most common:

• Deformities of the bones, especially in the face
• urine that is dark in colour
• delayed production and growth
• excessive exhaustion and fatigue
• skin that is yellow or pale

Types of thalassemia

There are three primary forms of thalassemia:

• The subtypes major and intermedia of beta thalassemia are major and intermedia, respectively.
• haemoglobin H and hydrops fetalis are two subtypes of alpha thalassemia.
• minor thalassemia

1. Thalassemia beta- When the body is unable to produce beta globin, it is known as beta thalassemia. Beta globin is made up of two genes, one from each parent. There are two severe subtypes of this form of thalassemia: thalassemia major (Cooley’s anaemia) and thalassemia intermedia.

• Thalassemia major- The most serious type of beta thalassemia is thalassemia major. It is caused by the absence of beta globin genes. Thalassemia main signs typically occur before a child’s second birthday. The extreme anaemia associated with this disorder can be fatal. Among the other signs and symptoms are:

1. irritability, paleness, and repeated infections
2. a lack of appetite
3. Failure to Succeed
4. A yellowing of the skin or the whites of the eyes is known as jaundice.
5. organs enlargement

• Thalassemia intermediate- Thalassemia intermedia is a milder type of the disease. It happens as a result of mutations in both beta globin genes. Blood transfusions are not needed for people with thalassemia intermedia.

2. Thalassemia alpha- When the body is unable to produce alpha globin, it is known as alpha thalassemia. To produce alpha globin, you’ll need four genes, two from each parent.

Hemoglobin H disease and hydrops fetalis are two severe forms of this type of thalassemia.

• Hemoglobin H disease- Hemoglobin H is a condition that occurs when three alpha globin genes are absent or when these genes are altered. This disease can cause bone problems. It’s likely that your cheeks, forehead, and jaw will all develop out of shape. Hemoglobin H disease can also result in:

1. a yellow tinge to the skin
2. a spleen that is highly swollen
3. Malnutrition

• Hydrops fetalis is a serious type of thalassemia that develops prior to birth. The majority of babies born with this condition are stillborn or die shortly after birth. When all four alpha globin genes are altered or absent, this disorder occurs.

3. Minor thalassemia- Two genes are absent in alpha minor cases. One gene is absent in beta minor. The majority of people with thalassemia minor have no symptoms. It’s possible that they have mild anaemia if they do. Alpha or beta thalassemia minor are the two types of thalassemia minor. Even if you don’t have any signs of thalassemia minor, you can still be a vector for the disease. This means that if you have children, they will inherit a gene mutation as well.

Diagnosing thalassemia

A blood sample would almost certainly be taken if the doctor is attempting to diagnose thalassemia. This sample will be sent to a lab to be screened for anaemia and elevated haemoglobin levels. A lab technician will examine the blood under a microscope to see whether any of the red blood cells are abnormally shaped. Thalassemia is characterised by abnormally formed red blood cells. Hemoglobin electrophoresis is another test that the lab technician can perform. This test distinguishes the various molecules in red blood cells, allowing the irregular form to be identified. A physical examination can also aid your doctor in making a diagnosis, depending on the form and severity of your thalassemia. A badly enlarged spleen, for example, may imply haemoglobin H disease to your doctor.

Treating thalassemia

Treatment for thalassemia is determined by the form and severity of the condition. Your doctor will prescribe a treatment plan that is tailored to your specific needs.

• Blood transfusions are one of the therapies.
• Medications and nutrients
• Surgery to remove the spleen or gallbladder is a possibility.
• Bone marrow transplant

Your doctor may advise you to avoid taking iron-containing vitamins or supplements. This is particularly true if you need blood transfusions, as recipients accumulate excess iron that the body cannot easily remove. Iron will build up in tissues, posing a risk of death. Chelation therapy can be needed if you receive a blood transfusion. This normally means having a chemical injection that binds to iron and other heavy metals. This aids in the removal of excess iron from the body.

Conclusion

If you have thalassemia, the prognosis is determined by the type of disease you have. People with moderate or minor forms of thalassemia are usually able to lead normal lives. Heart failure is a possibility in serious cases. Liver disease, irregular skeletal development, and endocrine problems are among the other complications.