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Key Points
- Thalassemias are inherited blood disorders.
"Inherited" means they're passed on from parents to children.
- Thalassemias cause the body to make fewer
healthy red blood cells and less hemoglobin than normal.
- People who have thalassemias can have mild or
severe
anemia.
This condition is caused by a lower than normal number of red blood cells or
not enough hemoglobin in the red blood cells.
- The two major types of thalassemia are alpha
thalassemia and beta thalassemia. There are different forms of each type.
- Thalassemias occur when the genes that control
the production of hemoglobin are missing or altered. Your body won't work
properly if your red blood cells don't make enough healthy hemoglobin.
- Family history and ancestry are the two risk
factors for thalassemias. If your parents have missing or altered
hemoglobin-making genes, you may have thalassemia. Thalassemias occur most
often among people of Italian, Greek, Middle Eastern, Asian, and African
descent.
- Signs and symptoms of thalassemias are due to
lack of oxygen in the bloodstream. They may include mild to severe anemia;
slowed growth and delayed puberty; bone problems; and enlarged spleen, liver,
or heart; a pale and listless appearance; poor appetite; dark urine; and
jaundice (a yellowish color of the skin or whites of the eyes). Symptoms depend
on the type of thalassemia you have. Silent carriers have no symptoms.
- Doctors diagnose thalassemias using
blood
tests, including a complete blood count and special hemoglobin tests.
Prenatal testing can show whether an unborn baby has thalassemia and how severe
it's likely to be.
- People who have mild thalassemia often need
little or no treatment. There are three standard treatments for moderate and
severe forms of thalassemia. These include
blood
transfusions, iron chelation therapy, and folic acid supplements.
- Better treatments now allow people who have
moderate and severe thalassemias to live much longer. As a result, these people
must cope with complications of the disease that develop over time.
Complications include heart and liver disease, infections, osteoporosis, and
other problems.
- Thalassemias can't be prevented because they're
inherited. However, these blood disorders can be found before birth through
prenatal testing.
- Living with thalassemia can be challenging, but
several approaches can help you cope. Follow your doctor's treatment plan, get
ongoing medical care, take measures to stay healthy, and seek help and support.
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