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 "How Do People Get Thalassemia?" How Do People Get Thalassemia? N.p., n.d. Web. 26 Nov "How Is Thalassemia Inherited?" EMedTV: Health Information Brought To Life. n.p., n.d. Web. 26 Nov "Living with Thalassemia." Diet and Calcium. N.p., n.d. Web. 26 Nov Staff, Mayo Clinic. "Definition." Mayo Clinic. Mayo Foundation for Medical and Research, 04 Feb Web. 26 Nov