Hemoglobinopathies are unique amongst all genetic diseases because the identification of healthy carriers is possible by commonly available blood tests – blood count, osmotic fragility, hemoglobin profile (first line tests) and molecular analysis is not required. If any abnormal hemoglobin fraction appears, functional tests are applied to determine with a pretty good degree of reliability the type of pathological hemoglobin and its clinical significance, avoiding the usage of expensive molecular methods. Confirmation of gene mutations presence with molecular techniques is only necessary in small number of cases – in so-called “couples at risk” for the purpose of prevention of thalassemia major, for prenatal or pre-implantation diagnosis – when both parents are thalassemia carriers (or suspected carriers), or carriers of clinically significant hemoglobin variant.
By comparison and evaluation of the results of relevant blood tests, the patient’s history, and considering additional factors, the proper diagnosis of hemoglobinopathies with non-molecular methods is crucial for the prevention of a childbirth with a severe diagnosis. Read the full article here.