What is Thalassemia?

Thalassemia is an inherited (i.e. passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin. An important part of red blood cells which carry oxygen to all the cells of the body.

There are few healthy red blood cells in the blood stream leading to anemia. A patient has abnormal hemoglobin and RBCs cannot sustain normal life.

Thalassemia Categories

1. Thalassemia Minor
  • Thalassemia minor is an inherited form of anemia that is less severe than Thalassemia major.
  • It is a carrier state in which the person lives a normal life does not need blood transfusion.
  • Prevalence of Thalassemia minor in India is 3.3%.
  • When two Thalassemia minors marry, there are 25% chances of their baby being Thalassemia major.
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2.Thalassemia Intermedia
  • Symptoms & signs range from presentations of Thalassemia minor & Thalassemia Major.
  • Blood requirement can be variable.
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3.Thalassemia Major
  • Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell (hemoglobin) production abnormalities.
  • This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life.
  • If left untreated, death usually results within a few years. The treatment is regular blood transfusion every month throughout the life.
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Symptoms and Signs

Generally signs & symptoms appear at the age of 6 months & above and the patients are at greater susceptibility to infections the sign and symptoms depends on the type of Thalassemia.

  • 1. Bone deformities in the face
  • 2. Fatigue
  • 3. Stunted / Slow Growth
  • 4. Shortness of breath
  • 5. Yellowing skin (Jaundice)
  • 6. People with the minor form of alpha and beta Thalassemia have small RBCs but no symptoms.
  • 7. Weakness
  • 8. Abdominal swelling.
  • 9. Dark urine.

Other Complications

Bone Deformity

Thalassemia leads to anemia causing increased demand of oxygen which stimulates bone marrow. Skeletal deformities results as the body tries to produce excess of bone marrow.

Splenomegaly

Thalassemia is often accompanied by the destruction of a large number of red blood cells and the task of removing these cells, the formation of blood cells outside of the bone marrow (extramedullary hematopoiesis), repeated blood transfusions, or iron overload causes the spleen to enlarge.

Mongoloid Faces

The orofacial symptoms of thalassemia are due to bone changes associated with ineffective erythropoiesis. The bones become thinner, and pathological fractures may occur. Changes in facial and cranial bones have been identified as the overexpansion of the bone marrow results in a typical facial appearance.

Cardiomegaly

Chronic ineffective erythropoiesis and anemia as its primary problems. Producing physiologic adaptations in the cardiovascular system as well as pathologic/iatrogenic processes such as iron overload, splenectomy, nutritional deficiencies, chronic oxidative stress, and lung disease.

Jaundice

Thalassemia has hyperbilirubinemia secondary to ongoing hemolysis and RBC distruction.

Thalassemia Treatment

Regular blood transfusions are needed to the Thalassemia patient for the maintenance of hemoglobin level to lead a near normal life.

1
Treatment for Thalassemia major often involves regular blood transfusions and Folic acid supplements.

3
People who receive a lot of blood transfusions need a treatment called chelation therapy. This is done to remove excess iron from the body.

2
If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

4
A bone marrow transplant may help treat the disease in some people, especially children.

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