Thalassemia

What is Thalassemia?

Thalassemia is a genetic blood disorder in which body makes an abnormal hemoglobin protein in the red blood cells.

Hemoglobin is the protein that carries oxygen in the blood and supplies to the all over the body.

The abnormal hemoglobin leads to the excessive destruction of the red blood cells leading to the anemia.

Hemoglobin contains the two alpha and two beta chains. In thalassemia these chains are affected.

The two forms of thalassemia are based on the abnormal mutation take place in the alpha and beta chains.


Symptoms of Thalassemia

Symptoms from mild to severe are developed in the body according to the defects. Some of the common symptoms are-

  • weakness
  • tiredness
  • fatigue
  • bone deformity
  • abnormal face features
  • delayed growth and development
  • jaundice
  • dark urine
  • loss of appetite


Causes of Thalassemia

Thalassemia occurs when one of the parents is carrier, then the symptoms and effects will be mild but if both the parents are carrier then the symptoms are severe and causes various complications in the body.
Thalassemia occurs when there is a defect in mutations of the genes that are involved in the production of the hemoglobin.
Genetic abnormality are carried to the next generation and causes the symptoms mild to severe.

Types of Thalassemia

According to the mutation occurs in whether alpha and beta chains thalassemia are of two types-
  • alpha thalassemia
  • beta thalassemia
  • minor thalassemia

Diagnosis of Thalassemia

Diagnosis includes the blood sample for the estimation of the hemoglobin and the measurement of the red blood counts.
  • blood test
  • hemoglobin electrophoresis
  • abdominal ultrasonography
  • liver function test
  • kidney function test
  • physical examination

Treatment of Thalassemia

Treatment of diseases depends upon the severity and types of symptoms occurs in the body. It means symptomatic treatment to be given.
  • blood transfusions
  • medications 
  • immunity boost supplements
  • bone marrow transplant
  • surgical procedures to remove spleen and gallbladder.

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