thalassemia major

Học thuật
Thân thiện
Definition

Noun: A severe, inherited blood disorder characterized by the complete or near-complete absence of functional hemoglobin, the protein in red blood cells that carries oxygen. It is the homozygous form of beta-thalassemia, meaning the defective gene is inherited from both parents. The condition leads to life-threatening anemia and complications including skeletal deformities and enlargement of the heart, spleen, and liver.

Usage

This term is used in medical contexts to diagnose and describe the most serious clinical presentation of beta-thalassemia. * The infant was diagnosed with thalassemia major and will require lifelong blood transfusions. * Treatment for thalassemia major often involves regular transfusions and iron chelation therapy.

Advanced Usage
  • "Cooley's anemia": This is a historical synonym for thalassemia major, named after Dr. Thomas Cooley who described it.
    • The older medical literature sometimes refers to thalassemia major as Cooley's anemia.
Variants and Related Words
  • Beta-thalassemia (noun): The broader category of the genetic disorder; thalassemia major is its most severe form.
  • Thalassemia minor (noun): The heterozygous, usually asymptomatic carrier state of the disorder.
  • Thalassemia intermedia (noun): A clinical diagnosis for patients with symptoms of intermediate severity between major and minor forms.
Synonyms
  • Cooley's anemia (medical synonym)
  • Mediterranean anemia (dated geographic reference)
  • Homozygous beta-thalassemia (genetic description)
Related Medical Terms
  • Hemoglobinopathy (noun): A general term for any disorder involving abnormal hemoglobin structure or production, under which thalassemia is classified.
  • Transfusion-dependent (adjective): Describing a condition, like thalassemia major, that requires regular blood transfusions for survival.
    • Patients with thalassemia major are transfusion-dependent from early childhood.
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

Từ đồng nghĩa

Từ gần giống