Thalassemia is a genetic condition found in people of Mediterranean ancestry, characterized by abnormal hemoglobin molecules in the blood. It has three types, each with minor and major variants, and can be managed with medication and dietary management. It is also found in regions where malaria is endemic.
Thalassemia anemia is a recessive genetic condition found in people of Mediterranean ancestry. A large family of related conditions are known collectively as thalassemia, and these conditions can take many different forms. In some regions where these conditions are endemic, governments have strongly recommended blood testing to identify carriers and make thalassaemic anemia less common and to identify cases early in pregnancy so that life-saving care can be provided. appropriate support.
This condition is characterized by 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 faulty 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 thalassemia major. Hemoglobin H or alpha minor is associated with hemolytic anemia, in which blood cells break down in response to various environmental triggers, resulting in anemia. It can be treated with medications and dietary management. Alpha major is usually incompatible with life: People born with the condition will die shortly after birth, if not sooner.
Beta thalassemia, the most common form, also has a major and a 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 raise the hemoglobin level, along with medications to help the body express iron so the iron does 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 usually causes few or 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, further testing is sometimes recommended for people with delta thalassemia anemia to confirm 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 to malaria infection, which explains why the trait persists for so long. People curious about whether or not they are a carrier may request blood work or genetic testing to check for anemia or the problematic gene.
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