The Mutations that Cause Thalassemia

Public Health Problem

When parents pass down their genetics to their offspring, they pass down eye color, height, blood type, etc. In some cases, unfortunately, parents also passed down genes for hereditary diseases like thalassemia. Thalassemia is a blood disorder passed down through families in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia (MedlinePlus, 2012). Hemoglobin is made up of Alpha globin and Beta globin, and thalassemia occurs when there is a mutation in a gene that helps control the production of one of these proteins.

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia, each named for the respective protein that the mutated gene affects and include two forms, thalassemia major and thalassemia minor. The mutations that cause thalassemia disrupt normal production of hemoglobin, causing low hemoglobin levels and red blood cell destruction, causing anemia. There are four genes involved with the production of the alpha hemoglobin chain. In alpha-thalassemia, when one inherits one mutated gene, he or she will show no signs or symptoms of thalassemia, but he or she is a carrier and can pass it on to his or her children. When one inherits two mutated genes, his or her thalassemia signs and symptoms will be mild. This is called alpha-thalassemia minor. When one inherits three mutated genes, his or her symptoms will be moderate to severe, and this condition is also called hemoglobin H disease. When one inherits four mutated genes, the condition is called alpha-thalassemia major or hydrous fetalis, and this will cause the fetus to die before delivery ...

... middle of paper ...

...mia/livingwith.html

Fucharoen, S., & Winichagoon, P. Prevention and Control of Thalassemia in Asia. Asian Biomedicine, 1, 2-5. Retrieved May 18, 2014, from http://abm.digitaljournals.org/index.php/abm/article/viewFile/91/10

Kremastinos, D. T., Farmakis, D., Aessopos, A., Hahalis, G., Hamodraka, E., Tsiapras, D., et al. Beta-Thalassemia Cardiomyopathy. Circulation: Heart Failure, 3, 451-458. Retrieved May 18, 2014, from http://circheartfailure.ahajournals.org/content/3/3/451.full#ack-1

Thalassemia. (2010, March 10). Retrieved May 18, 2014, from http://www.cdc.gov/ncbddd/thalassemia/index.html

Thalassemia. (2014, January 2). Retrieved May 18, 2014, from http://www.mayoclinic.org/diseases-conditions/thalassemia/basics/complications/con-20030316

Thalassemia. (2012, February 7). Retrieved May 18, 2014, from http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm