Thalassemia Types & Other Hemoglobin Diseases

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What are Hemoglobin Diseases (Hemoglobinopathy)?
The hemoglobin which gives its color to blood and exists in our blood cells is a vital protein. Genetic disorders of hemoglobin are called hemoglobinopathy.  The hemoglobin molecule comprising of four protein chains is responsible for carrying oxygen to tissues by blood. Any disorders arising in this protein may result in carrying of inadequate oxygen to tissues and clinically occur as a range of diseases progressing from insignificant symptoms to serious symptoms. 

Frequently experienced forms of hemoglobinopathies are thalassemia (Mediterranean anemia) and sickle cell anemia. Besides these, there are numerous rarely seen hemoglobinopathy types such as Hemoglobin (Hb)E, HbC and HbD diseases. 
Thalassemia types generally demonstrate autosomal recessive genetic and are among the most common diseases relating to single gene globally. Mainly two different thalassemia types are mentioned. Alpha thalassemia characterized with decrease in the reproduction of alpha globulin chain, and beta thalassemia with disorders in the reproduction of beta globulin chains. The specificity of sickness tables are very different and are related to the number of relevant gene copies and the type of mutation. (Up to now, more than 1,000 various mutations have been determined) Insignificant types of thalassemia generally are not pointed out and demonstrate a slight anemia. But in its significant types, blood transfusion is required. 
What is Anemia?
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.      
How Considerable is Thalassemia Risk?
Frequency (prevalence) of thalassemia incidences is connected to ethnic background. Those whose fathers came from Mediterranean and Arabian countries or certain countries of Asia and Africa are much more susceptible to the risk of being a carrier. Therefore, it is very important to state the ethnic background while requests for medial and laboratory examinations. In total, about 4.5 of the population in countries are carriers of thalassemia or any other hemoglobin anomaly. 

Figure:  Key regions (screened) with frequent β thalassemia major. It is most frequent first of all in countries with common or previously common malaria incidences. The carriers of thalassemia have a partial immunity against malaria infections and the blood cells fall down not allowing time for development of the malaria microbe. Therefore, the carriers of thalassemia in these regions have a certain immunity advantage.     
How is Thalassemia Diagnosed?
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.  
What are Advantages of Molecular Diagnosis?
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)
What are Findings of Positive Symptom?
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. 
What do Negative Results of Survey Mean?
Any survey result assessed as a negative means non-detection of any mutation or deletion in the analyzed genes. In this case, the possibility of thalassemia may not be definitely excluded, as mutation may be found in rare cases in non-analyzed gene zones or other (not determined up to now) genes.  

Important Info on Request and Sample Materials 

Sample material: 5-10 mL blood sample with EDTA
Survey period: About 2 weeks 
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