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THALASSEMIA
“SEA IN THE BLOOD”
By: Marija Jukic
HIS TORY AND BACKGROUND
 1925
 Doctor Thomas Cooley
 Genetic blood disorder
 First discovered in the Mediterranean area
 Preventative against malaria- prevalent in those areas
 Characterized by a lack of red blood cells and low hemoglobin
 Resulting in fatigue caused by anemia
 Several types exist of different severities
 Alpha thalassemia
 Beta thalassemia- most prevalent
 Major (Cooley’s Anemia and Mediterranean Anemia)
 Minor
ORIGIN AND INHERITANCE
 Inherited when a mutated thalassemia gene is passed from a parent to
child
 Nature of the gene determines the severity
 Autosomal recessive
Alpha Thalassemia
 Cause: HBA1 and HBA2 gene deletions
Beta Thalassemia
 Cause: HBB mutated gene
 Makes beta-globin- subunit of hemoglobin
SYMPTOMS
 Fatigue
 Weakness
 Shortness of breath
 Paleness
 Irritability
 Discoloration of skin (jaundice)
 Disproportionate organs/bones
 Deformities of facial bones
 Slow growth
 Swelling of abdomen
 Dark urine
All depend on the severity of the disease
DIAGNOSIS
Newborn children appear healthy at first
 Special hemoglobin from the fetus is replaced with faulty
hemoglobin
Blood testing
Prenatal testing:
 Amniocentesis (fluid around fetus)
 Chorionic Villus Sampling (placenta)
TREATMENT AND PREVENTATIVES
 Treatment depends on the severity
MILD:
 None
 Blood transfusion
MODERATE/SEVERE
 Frequent blood transfusions
 Medication to rid of iron caused by transfusions
 Stem cell transplant
 Radiation to rid of diseased bone marrow
 Donor donates healthy bone marrow
 Reserved for most severe cases- severe risks
 Aided reproductive testing is available to parents who are diseased/carriers
SUMMARY
 Thalassemia results in low oxygen in the blood- anemia
 Beta Thalassemia major is most prevalent
 Autosomal recessive
 Caused by mutations/deletions in gene’s
 Symptoms can appear within 2 years after birth
 A diagnosis can occur prenatally
 Treatment is available
 Living with Thalassemia: many doctor visits, low iron and
calcium diets
WORKS CITED
Cooley's Anemia Foundation Leading the Fight against
Thalassemia." Thalassemiaorg the Cooleys Anemia Foundation Site. n.p.,
n.d. Web. 25 Nov. 2013.
"How Do People Get Thalassemia?" How Do People Get Thalassemia? N.p., n.d.
Web. 26 Nov. 2013.
"How Is Thalassemia Inherited?" EMedTV: Health Information Brought To Life.
n.p., n.d. Web. 26 Nov. 2013.
"Living with Thalassemia." Diet and Calcium. N.p., n.d. Web. 26 Nov. 2013.
Staff, Mayo Clinic. "Definition." Mayo Clinic. Mayo Foundation for Medical
and Research, 04 Feb. 2011. Web. 26 Nov. 2013.