Thalassemia anemia is a recessive genetic condition found in people of Mediterranean descent. A large family of related conditions are known collectively as thalassemias, and these conditions can take a number of forms. In some regions where these conditions are endemic, governments have strongly recommended blood testing to identify carriers and make thalassemia anemia less common, and to identify cases early in pregnancy so that the appropriate supportive care can be provided.
This condition is characterized by a abnormal hemoglobin molecules in the blood. There are three types, each named after the type of globin chain involved: alpha, beta, and delta thalassemia. Because this trait is recessive, people with only one copy of the defective gene usually experience mild anemia or no symptoms, while people with both copies have more severe symptoms.
Alpha thalassemia anemia takes the form of hemoglobin H or alpha major thalassemia. Hemoglobin H or alpha minor is associated with hemolytic anemia, in which the blood cells break down in response to various environmental triggers, causing anemia. It can be treated with medications and dietary management. Alpha major is usually incompatible with life: people who are born with this condition will die shortly after birth, if not before.
Beta thalassemia, the most common form, also has a major and minor variant. The minor variant typically causes minimal symptoms, while the major version, also known as Cooley's Anemia, can be treated with blood transfusions to up the hemoglobin level, along with medications to help the body express iron so that iron will not build up in the body. These conditions are very manageable, as long as patients stay on top of their regimens.
Delta thalassemia is closely related to beta thalassemia anemia, and it usually causes few to no symptoms in the patient. However, people can have both beta and delta thalassemia, and the presence of the delta form can obscure the beta form, which can lead to complications in proper diagnosis and treatment. For this reason, additional testing is sometimes recommended for people with delta thalassemia anemia to confirm that they do not have the more problematic beta form.
In addition to being found in people of Mediterranean descent, thalassemia anemia also appears in regions where malaria is endemic. This type of anemia confers some resistance against malaria infection, which explains why the trait has persisted for so long. People who are curious about whether or not they are carriers can request bloodwork or genetic tests to check for anemia or the problem gene.
