Thalassemia Types & Other Hemoglobin Diseases

Anemia, which is also known as bloodlessness in colloquial speech, is not a disease and is a condition that needs clarification of the reasons for. Anemia is defined as decrease in hemoglobin levels, which result in decrease in the carriage capacity of oxygen. In anemia, besides symptoms such as weakness, throbs and faintless, memory problems, concentration disorder and general decrease in performance may also be observed. The most common reason of anemia is seen as iron deficiency which is the reason for the most part of all anemia cases and may be treated by taking iron. Moreover, hemoglobinopathies may also frequently cause anemia.      

In an anemia suspicion, firstly, laboratory surveys are performed in a blood sample recommended by your doctor. If the survey findings indicate thalassemia, a hemoglobin variant analysis (electrophoresis, HPLC) indicating the combination of various hemoglobin types is conducted. It is generally satisfactory to determine the thalassemia or sickle cell anemia. However, some types of thalassemia (such as alpha thalassemia minima and minor) may not be determined by this method. In such cases, a molecular genetic analysis is conducted.  

It is not possible to determine all types of the thalassemia definitely through standard laboratory techniques. There is a need to clarify the complicated or insignificant types of the alpha thalassemia through molecular tests. Also, genetic surveys are appropriate in requests for preventive studies. These surveys cover the prenatal diagnosis and determination of the fact whether the relatives and children of those diagnosed with thalassemia are carriers or not. Even in the thalassemia carriers who are not clinically attractive, the genetic status of the partners is very important in family planning in terms of estimation of the risks for the babies to be born.

If needed, a molecular genetic survey in accompaniment with a genetic briefing meeting is recommended. Within the framework of such a meeting, the risk carried by the counselee and his/her relatives may be estimated. Furthermore, the opportunities and restrictions and the benefits and risks that the molecular genetic diagnosis offers are also disclosed in order to make an appropriate decision on conduction of a genetic survey on this basis. Here, the right to be unaware is effective, that is, performance of genetic diagnoses depends on the personal decision of the patient.

• Alpha thalassemia minima (aa/ -a): Generally, is not attractive from the clinical point of view.
• Alpha thalassemia minor (aa/ -): Generally, is not attractive from the clinical point of view.
• HbH disease (-a- -): Necessitates partial transfusion.
• HbBart disease (--/--): Hydrops fetalis (terminal)

A right diagnosis is a guide of a right treatment. Generally, in insignificant types of thalassemia, not requiring treatment, the findings are firstly important for family planning in addition to a differential diagnosis (for example, an anemia). If mutation is diagnosed in both spouses, transmission of it to the future babies may be considered and if applicable, a prenatal survey is performed. The intensity of the disease varies to arrival of the baby to the Hidrops fetalis that leads to the death of the baby in the uterus, according to the status of the genetics of the families.