Beta Thalassemia

Beta Thalassemia is a blood disorder. It reduces the amount of hemoglobin you produce, which is a protein that contains iron. Hemoglobin in red blood cells is what carries oxygen to cells throughout your body.

Beta Thalassemia is caused by mutations on the HBB gene which can be found on the short arm of chromosome 11. HBB is a gene that holds instructions for making the protein beta-globin, which is a component in hemoglobin. It is inherited from an autosomal recessive pattern. You can inherit this disorder from your parents even though they don't show symptoms and signs from the condition.

Beta Thalassemia is classified into two types depending on how severe your symptoms are. There is Thalassemia intermedia and the most severe is Thalassemia Major. Those with thalassemia major will experience symptoms or signs of this disorder in the first two years of their lives. Children with thalassemia major will experience delayed puberty, yellowing of the skin and eyes, not being able to gain weight, enlarged liver, spleen, and heart, and their bones maybe misshaped. Those with thalassemia major may experience such severe symptoms that they may need to frequently get blood tranfusions to restore their red blood cell supply. Those with thalassemia intermedia usually only experience anemia. Anemia is a condition in which your body doesn't have enough healthy red blood cells.

You're diagnosed with beta thalassemia depending on how severe your anemia is and by taking a blood test to check for any red blood cell or hemoglobin abnormalities. If your results come back abnormal for either, genetic testing for mutations on the HBB gene will be taken.

Treatment that is available for thalassemia major is having regular transfuctions to help increase the production of iron and correct anemia. The only existing cure is to have a bone marrow transplant from either an identical sibling or a donor. For thalassemia intermedia, treatment consists of having frequent therapy that involves having red blood cell tranfusions.

This is a common blood disorder worldwide. The chances of inheriting this disorder is 1 in 3,600 individuals. It occurs most often in people from North Africa, the Middle East, Central and Southeast Asia, India, and Mediterranean countries.

The life expectancy for someone that isn't treated will die in their early 30's and those that are treated can live a normal lifespan.