Cause
Treatments
-You need two genes to make enough beta globin protein chains
-If one or both of these genes are altered, you'll have beta thalassemia
- one altered gene = carrier w/ mild anemia
- two altered genes = major anemia or Cooley's
- Regular blood transfusions
- Transfusions can cause iron to build up in the blood (damage heart and liver)
- iron chelation therapy to remove excess iron from the body
- Folic acid is a B vitamin that helps build healthy red blood cells
- stem cell transplant is the only treatment that can cure thalassemia
Prognosis
- can cause early death due to heart failure, usually between ages 20 and 30
- regular blood transfusions and therapy to remove iron from the body helps improve the outcome
- Genetic counseling and prenatal screening may help people with a family history of this condition who are planning to have children.
Special Care
after transfusions and other surgical methods are used, patients are usually given antibiotics after obtaining regular urine samples
Cooley's Anemia
Karyotype
The beta globin gene is located on chromosome 11. A child inherits two beta globin genes (one from each parent)
inherited by an autosomal recessive gene
tests:
complete blood count
hemoglobin electrophoresis
Physical Manifestations
- usually seen in first two years of life
- poor appetite
- jaundice
- dark urine
- slow growth/ delayed puberty
- enlarge spleen, liver, or heart
- bone problems (mostly face)
Sources
complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care
- http://www.thalassemia.org/learn-about-thalassemia/about-thalassemia/
- http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/prevention.html
- http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm