The thalassemias are a group of inherited, genetic blood disorders that affect the body's ability to produce hemoglobin, the protein that red blood cells use to carry oxygen to every cell in the body. Hemoglobin is a combination of alpha and beta hemoglobin. The alpha and beta hemoglobin genes regulate the production of these hemoglobins. The effects of thalassemia vary greatly, depending on how many of the hemoglobin genes are affected and how severely they are affected. The most severe thalassemia is called thalassemia major. This blood disorder was previously fatal during childhood, but has now been reclassified as a manageable chronic condition. With proper treatment and regular medical monitoring, thalassemia major patients can now lead long productive lives that include education, careers, marriage and children. While currently the only cure is bone marrow transplant (BMT), we can expect treatment to continue to advance and possibly soon see a new cure through gene therapy. It is very important for patients to comply with treatment, as it will give them a better life now and also help keep them alive to take advantage of new treatments and a cure.
The less severe forms of thalassemia are intermedia and minor, and symptoms can range from none to dependence on transfusion in some cases of intermedia. It is very important that anyone diagnosed with any classification be aware that they are carriers. This information is very important in terms of planning a family. Even though thalassemia carriers (minors) may have few or no symptoms, if they have children with another carrier, they risk the chance of having a thalassemia major child. With genetic counseling it is possible for two carriers to assure they will not have a major child. Education and awareness about thalassemia is a primary goal of this group.