Detección e identificación de hemoglobinopatías / Haemoglobunipathies. Detection and identification

ABSTRACT

When a patient must be studied for a suspected hemoglobin abnormality, several approaches should be followed. The most important mean for establishing the relationship between a given abnormality and the clinical effect, assessing if the pathology is congenital, inherited, a "novo mulation" or even acquired, is a complete family study with a normal control, avoiding the workout of a transfused patient. Through the clinical history the following information should be investigated patient and ancestors geographical background, evidence of hyperthemolysis or increased hemolysis by oxidant drugs exposure or infection, antecedents of paintful abdominal or bone crisis, splenomegaly, gallstones, cyanosis, erythrocytosis, etc.Its recomended to conduct the following laboratory studies 1)hematological evaluation with automated cellcounter, careful observation of the red cell morphology and reticulocyte count, 2)electrophoretic analysis, 3)cuantification of Hb A2, 4)detection of Hb S and 5)detection of unstable hemoglobin variants