Thalassemia

Thalassemia

Thalassemia (from Greek θαλασσα, thalassa, sea + αίμα, haima, blood; British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a haemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes.

What Are Thalassemias?

Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. "Inherited" means they're passed on from parents to children through genes.

Thalassemias cause the body to make fewer healthy red blood cells and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.

People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). This condition is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells.