- inherited blood disorder in which the body makes an abnormal form of hemoglobin
- two main forms of thalassemia are alpha-thalassemia and beta-thalassemia
- Pale appearance
- Yellow discoloration of skin (jaundice)
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
- frequent infections
mutation in one of the genes involved in hemoglobin production
- One mutated gene, you’ll have no signs or symptoms of thalassemia.
- Two mutated genes, your thalassemia signs and symptoms will be mild.
- Three mutated genes, your signs and symptoms will be moderate to severe
- Four mutated genes, the condition is called alpha-thalassemia major or hydrops fetalis
- 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
around the Mediterranean – including Italy, Greece, and Cyprus
India, Pakistan and Bangladesh
the Middle East
China and Southeast Asia
family history of thalassemia
- blood tests.
- Prenatal testing:
- Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
- Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.
- assisted reproductive technology that combines pre-implantation genetic diagnosis
- blood transfusions
- a bone marrow transplant (BMT)
- medications and supplements
- possible surgery to remove the spleen or gallbladder
- remove excess iron
- chelation therapy
- desferrioxamine (DFO) – taken using a pump that slowly feeds the medicine through a needle into the skin (infusion) over 8-12 hours, five or six times a week
- deferiprone (DFP) – taken as a tablet or liquid three times a day; it’s sometimes used alongside DFO to reduce the number of infusions you need
- deferasirox (DFX) – taken once a day as a tablet that you dissolve in a drink
- avoid excess iron
- healthy diet
- avoid infections
- avoid smoking and drinking excessive amounts of alcohol
- exercise regularly