Thalassemia is called by our population as Familial Mediterranean Anemia. As the name implies, it is a hereditary disease. It is inherited from parents. It is common at Mediterranean geography and it is associated with anemia.
How it occurs?
First of all, we have to talk about the structure of hemoglobin. The molecule “hemoglobin" gives red color to our blood and carries oxygen to our tissues. This molecule consists of two parts. One is iron “Hem" part, and the other one is protein “Globin" part. Globin part, made of protein, is comprised of 2 protein chains. Hemoglobin A is the most common type of hemoglobin in adults. Hemoglobin A consists of 2 Alpha and 2 Beta protein chains. The disease is named to refer impaired globin chain. If Beta chain is impaired, the disease is called Beta-thalassemia, or if Alpha chain is impaired, then the disease is called Alpha-thalassemia, and thalassemia also refers less common impairment of other hemoglobin types, such as FA2, albeit rare. Impairment of hemoglobin-producing gene is necessary for any abnormality of those chains. As a result of this impairment, whether familial or acquired, production of protein chains will decrease, resulting with different types of the disease, which vary in terms of severity.
Management of thalassemia depends on the severity of disease. No management is needed for thalassemia carriers. We refer people to genetic counseling and diagnosis centers in order to ensure they have healthy children. In thalassemia intermedia, i.e. intermediate thalassemia, people are transfused blood whenever they need. For patients with increased iron load, iron-lowering therapy – chelation- is started. In most severe cases, also referred as thalassemia major, patients are required to be transfused blood at monthly intervals to survive. Relevant management should be started to decrease iron lead after 2 years of age.
Repeated blood transfusions result in iron depositions in vital organs such as heart and liver, resulting with life-threatening side effects, including but not limited to heart failure and cirrhosis, at adolescence. However, definitive management is the bone marrow transplantation. If the patient has a haploidentic sibling, the disease can be completely cured with bone marrow transplantation, and the patient will be free from blood transfusions, and subsequently, excessive iron deposition is eliminated.
- We refer people to genetic counseling and diagnosis centers in order to ensure they have healthy children
