Thalassemia || Its Causes, Symptoms & More

Thalassemia are inherited blood disorders in which the ability of producing hemoglobin (  the protein molecule in red blood cells that carries oxygen ) and red blood cells affects on your body.

The patient affected with this disease have negligible or very few red blood cells and hemoglobin are available on there body.

This disease can effects both gender ( male & Female ) in any age.

Types :

Hemoglobin made by the chains of four alpha-globin and two beta-globin protein. there are two main types of this disease including –

  1. Alpha Thalasemia
  2. Beta Thalasemia
Alpha Thalasemia :

Alpha thalasemia occurs when hemoglobin does not produce enough alpha protein.

Beta Thalasemia :

Beta-globin chains are made by two globin genes ( one from each parent ). Beta thalasema occurs when one or both genes are affected.

Symptoms :

Symptoms of this disease depends on the type of thalasemia. Some common symptoms are –

  • Drowsiness
  • Chest pain
  • Cold hands and feet
  • Change the color of skin like – yellow or pale
  • Leg cramps
  • Tiredness
  • Fatigue
  • Shortness of breath
  • Headache
  • Change the color of urine

Causes :

This disease are caused by missing genes that affect the hemoglobin of your body. The main causes are :

  • Family history
  • Mutation of blood cells
  • Proteins can not carry enough oxygen
  • Error in any step of central dogma

Diagnosis & Treatment :  

Diagnosis :

If you found its symptoms then visit to your doctor. Your doctor can suggest you to take a blood test for check anemia and abnormal hemoglobin in the blood.

  1. A complete blood count (CBC) : It check the levels of hemoglobin and the level and size of red blood cells.
  2. A reticulocyte count : It measures how fast the red blood cells produce and released by your bone marrow.
  3. Iron : It helps the doctor determine the cause of anemia.
  4. Genetic testing : It checks the DNA analysis will show whether a person has thalasemia or faulty genes.
Treatment :

The treatment of this disease are depends on its types.

  1. Blood Transfer : It helps to replace the hemoglobin and red blood cell levels on your body.
  2. Iron chelation : It helps to remove excess iron from the bloodstream.
  3. Surgery : It helps to correct your abnormal bones.
  4. Gene therapy : It helps to reduce your disease.
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