Thalassemia: Causes, Symptoms, Diagnosis, and Treatment

Thalassemia: What is it?

A congenital genetic disorder known as thalassemia is characterized by defective hemoglobin and low red blood cell numbers. Chronic disease thalassemia necessitates lifetime monitoring and therapy.

Thalassemia causes the body to produce an abnormal kind of hemoglobin. Hemoglobin is a protein molecule found in red blood cells that transports oxygen.

The condition leads to the excessive breakdown of red blood cells, resulting in anemia. Your body doesn’t produce enough normal, healthy red blood cells, which is a condition known as anemia.

In order to be genetically predisposed to thalassemia, you must have a parent who has the condition. It results from a genetic mutation or the loss of specific important gene segments.

Different subtypes of these thalassemias exist. Your prognosis and symptom severity will be influenced by the specific kind you have

Which factors contribute to thalassemia?

The body produces defective hemoglobin when a baby inherits a defective hemoglobin gene from one or both parents. The alpha and beta chains make up the iron-binding protein known as hemoglobin. The binding and transport of oxygen are important functions of this protein structure.

The amount of defective hemoglobin varies depending on the type of gene damage. The severity of thalassemia increases with the amount of defective hemoglobin.

Anemia and the symptoms that go along with it are brought on by abnormal hemoglobin’s failure to transport oxygen in the blood. The body reacts to this alteration by producing more red blood cells and hemoglobin. There are many symptoms and problems as a result of this overproduction drive.

What variations of thalassemia are there?

Alpha-thalassemia and beta-thalassemia are two different types of thalassemia categorized based on the hemoglobin gene involved. The most deadly kind, beta-thalassemia major, is typically discovered in very young children.

The severity of the disease is categorized into:

  • Thalassemia minor (trait)
  • Thalassemia intermediate
  • Thalassemia major

The form that is most severe is beta-thalassemia major. Two beta-thalassemia genes are damaged in this disease. This causes severe anemia, which manifests itself between the ages of 4 and 6 months.

What signs or symptoms does thalassemia have?

Symptoms of thalassemia include the following.

Thalassemia anemia and bone abnormalities are brought on by beta-thalassemia major. When a newborn is a few months old, some signs can typically be seen. These include:

  • Light skin
  • Unusual irritability
  • Slow or insufficient growth.
  • Bloated abdomen
  • Prone to infections.
  • The yellowness of the eye’s “whites” 
  • Abnormally broad skulls and facial bones are caused by excessive bone marrow enlargement.

What problems can arise from thalassemia?

Thalassemia-related complications include:

  • Iron overload: Thalassemia patients frequently receive blood transfusions, which may lead to signs of too much iron in the body. Consuming too much iron causes damage to the heart, kidneys, liver, and endocrine system.
  • Prone to Infections: Thalassemia patients are more vulnerable to infections, particularly after having their spleen removed.
  • Bone deformities: An defective bone structure brought on by bone marrow growth makes bones thin, fragile, and prone to breaking, especially in the face and skull.
  • Enlarged Spleen: Reduced or aberrant red blood cells make the spleen work harder than usual, which results in an enlarged spleen. Splenomegaly (spleen growth) makes anemia and the survival of red blood cells in transfusions worse. Consequently, the physician might advise removing the spleen (splenectomy).
  • Slower kid growth: Anemia can harm a child’s development and growth.
  • Heart conditions: Severe cases of thalassemia can be caused by heart conditions such as arrhythmias and congestive heart failure.

The method for thalassemia diagnosis

The pediatrician or physician can identify thalassemia by:

  • Comprehensive medical history
  • Blood tests to determine the thalassemia type. Smaller and paler than typical red blood cells, they are present.
  • Genetic tests are to determine the precise type of afflicted gene. Testing other members of the family might be beneficial.

How should people with thalassemia be cared for?

The following advice is for those who have thalassemia:

  • Never forego routine doctor checkups. Do adhere to all directions.
  • Avoid taking iron supplements or other drugs without first seeing your physician.
  • Consult your doctor about the risk that your future offspring will have the condition if you or your child have been diagnosed with thalassemia.

To learn more about thalassemia and its treatment, you can visit the experienced healthcare professionals at Galaxy Multispeciality Hospital. Click here to book an appointment.

What is the treatment for thalassemia?

Effective thalassemia treatments include:

  • Blood transfusions on a regular basis and iron chelation therapy
  • Chelation therapy for iron aids in removing extra iron that accumulates from frequent blood transfusions.
  • Transplanting stem cells or bone marrow
  • In some instances where the thalassemia major is suitable, the surgery is recommended.

Spleen removal through surgery (an organ that destroys RBCs). When it comes to some persons with heavy beta-thalassemia, this is a possibility.

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