Diagnosing Hemoglobinopathies

Despite being two distinct diseases, thalassemias and hemoglobinopthies are usually grouped together. The major difference between the two is a decrease versus a disruption. Thalassemaias are the result of a deficiency in one of the globin chains within the hemoglobin, which causes a problems in terms of production. With hemoglobinopathies, on the other hand, the problem the hemoglobin is interrupted by the removal or substitution of an amino acid. Each type of disease is characterized by anemia or another blood disorder that presents in such a way that it can sometimes mimic other diseases.

There are a number of confirmatory tests available for both hemoglobinopathies and thalassemias. Common disorders like sickle cell disease are caused by hemoglobin S, which is tested for with relative ease, but there are also hemoglobin variants that are unknown to the laboratory professionals. In these cases, confirmatory testing is required and the specimen is sent out for a definitive analysis. For thalassemias, including beta-thalassemia, the laboratory must test to measure hemoglobin A2 accurately, but alpha-thalassemias require more complex approaches like molecular diagnostic techniques.

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Diagnosing Hemoglobinopathies

Source: ADVANCE