thalassaemia major

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Definition
  1. Noun:
    • A severe inherited blood disorder: "thalassaemia major" is a fatal form of homozygous thalassemia, inherited when a child receives the gene for the disorder from both parents. It is characterized by the body's inability to produce normal, functional hemoglobin.
    • A condition with specific clinical features: The disorder leads to severe anemia, skeletal deformities, and the enlargement of organs such as the heart, spleen, and liver.
Usage Examples
  • Noun:
    • The infant was diagnosed with thalassaemia major shortly after birth.
    • Treatment for thalassaemia major typically involves regular blood transfusions and iron chelation therapy.
Advanced Usage
  • Medical context: The term is used specifically in hematology and genetics to describe the most severe, transfusion-dependent form of beta-thalassemia.
    • The study compared the quality of life in patients with thalassaemia major versus thalassaemia intermedia.
Variants and Related Words
  • Thalassemia (noun): The broader term for a group of inherited blood disorders affecting hemoglobin production. "Thalassaemia major" is a specific, severe type.
  • Beta-thalassemia major (noun): A more precise synonym, specifying the involved hemoglobin chain.
  • Cooley's anemia (noun): An older, eponymous term for thalassaemia major.
  • Homozygous beta-thalassemia (noun): A genetic description meaning the individual has two identical defective genes.
Synonyms
  • Beta-thalassemia major
  • Cooley's anemia
  • Transfusion-dependent thalassemia
Notes on Meaning

The term "thalassaemia major" refers exclusively to the severe, homozygous form of the disease. It is distinct from "thalassaemia minor" (a carrier state with mild or no symptoms) and "thalassaemia intermedia" (a moderate form that may not require regular transfusions). The defining feature is the near-complete absence of functional hemoglobin production.

Noun
  1. a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged

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