Thalassemia is an inherited blood disorder caused by mutations in the DNA of cells that make hemoglobin, the substance in red blood cells that carries oxygen throughout the body. Thalassemia affects the bodys ability to produce normal hemoglobin, which results in fewer healthy hemoglobin proteins and fewer healthy red blood cells. Hemoglobin enables red blood cells to carry oxygen, and when there is not enough hemoglobin, the bodys cells are deprived of the oxygen they need to make energy and thrive. Thalassemia is caused when the body doesnt make enough of a protein called hemoglobin, which is an important part of red blood cells.
There are several types of thalassemia, and the signs and symptoms depend on the type and severity of the condition. Thalassemia can cause anemia, leaving a person fatigued, weak, and with pale or yellowish skin. The severity of thalassemia is classified as trait, minor, intermedia, or major. Thalassemia major is the most serious form and usually requires regular treatment.
Thalassemia is treatable and can be well-managed with blood transfusions and chelation therapy. People with thalassemia may also need to take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly. People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test.