Molecular analysis of alpha-globin involves the test of the 21 most frequent hemoglobin alpha chain mutations.
Αlpha thalassemia is one of the most common genetic abnormalities of hemoglobin and is caused by reduced or no production of alpha-globin chains. Alpha thalassemia is widespread in tropical and subtropical regions of the world where malaria was and continues to be epidemic, but as a result of recent mass migrations, alpha thalassemia has become a relatively common clinical problem in North America, Northern Europe, and Australia. Alpha thalassemia is a very heterogeneous pathological condition at the clinical and molecular levels. Four clinical manifestations of increasing severity have been identified: silent carrier status, alpha thalassemia stigma, intermediate form of hemoglobinopathy H, and hydrops fetalis syndrome with hemoglobin Bart which is fatal in the uterus or immediately after birth.
Αlpha thalassemia is most often caused by deletions involving one or both of the α-globin genes and less often by non-deletions. A large number of a-thalassemia alleles have been described whose interactions lead to a wide range of hematological and clinical phenotypes. The association between genotypes and phenotypes has only been partially clarified. The carriers of alpha thalassemia need no treatment. Typically, patients with H hemoglobinopathy are clinically healthy and survive untreated, but red blood cell transfusions may occasionally be needed if hemoglobin levels suddenly drop due to hemolytic or aplastic crisis, usually as a result of viral infections. Hydrops fetalis syndrome currently has no effective treatment, although there have been attempts at intrauterine transfusion and hematopoietic stem cell transplantation.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.