WORLD THALASSEMIA DAY (8th MAY)
Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Several types of thalassemia exist, including alpha-thalassemia, beta-thalassemia intermedia, Cooley's anemia and Mediterranean anemia. Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.CAUSES:
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children. The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction, causing anemia.TYPES:
The type of
thalassemia you have depends on the number of gene mutations you inherit from
your parents and which part of the hemoglobin molecule is affected by the
mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin
molecules are made of alpha and beta parts that can be affected by mutations.
Alpha-thalassemia
Four genes are
involved in making the alpha hemoglobin chain. You get two from each of your
parents. If you inherit:
- One mutated gene, you'll have no signs or symptoms of thalassemia. But, you are a carrier of the disease and can pass it on to your children.
- Two mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia minor, or you may be told you have an alpha-thalassemia trait.
- Three mutated genes, your signs and symptoms will be moderate to severe. This condition is also called hemoglobin H disease.
- Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or a newborn to die shortly after birth.
Beta-thalassemia
Two genes are
involved in making the beta hemoglobin chain. You get one from each of your
parents. If you inherit:
- One mutated gene, you'll have mild signs and symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.
- Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major, which is also known as Cooley's anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and symptoms within the first two years of life. A milder form, called beta-thalassemia intermedia, also may occur with two mutated genes.
SYMPTOMS
Thalassemia
symptoms include:
- Fatigue
- Weakness
- Pale appearance
- Yellow discoloration of skin (jaundice)
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine