Thalassemia

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Thalassemia

Definition

Thalassemia are genetic disorders of Hb synthesis in which there is reduced production of one or more chains of Hb.

Thalassemia is a genetic blood disorder characterized by reduced or absent production of hemoglobin, the protein in red blood cells responsible for carrying oxygen. It doesn’t have exact synonyms, but Thalassemia known by other names, particularly those that specify the type or severity:

  • Cooley’s anemia: This refers to the most severe form of beta-thalassemia, also known as beta-thalassemia major.
  • Mediterranean anemia: This is a general term for thalassemia, reflecting its prevalence in populations around the Mediterranean Sea.
  • Alpha-thalassemia: This type affects the production of alpha-globin chains in hemoglobin.
  • Beta-thalassemia: This type affects the production of beta-globin chains in hemoglobin.

The severity of thalassemia varies depending on the specific genetic mutation and the number of affected genes. Milder forms may cause mild anemia, while severe cases can lead to significant health problems, including growth delays, bone deformities, and organ damage.

Frequently Asked Questions (FAQ)

They are genetic disorders of Hb synthesis in which there is reduced production of one or more chains of Hb.

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It is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body

  • Anemic
  • Increasing pallor
  • Splenomegaly
  • Frontal bossing
  • Mild hemolytic jaundice
  • Bone changes- ‘Hair on end’ appearance
  • Increased susceptibility to infections
  • Hepatomegaly
  • Cardiac involvement– Myocardial hemosiderosis

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