Sociedad Argentina de Hematología

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Revista Argentina de Hematología

Abstract

Volumen:    22    # Number : 3

Publication Date :    Septiembre - Diciembre    Year:    2018

   ARTÍCULO ORIGINAL

Performance of a diagnostic laboratory algorithm for the detection of hemoglobinopathies

Authors: Muñoz R, Laso Bautista J, Rapún L, Banús C, Prado MC, Montero E, Huete L, López Andreoni L

Abstract: Hemoglobinopathies are qualitative or quantitative genetic disorders that affect the globin chains, whose consequence may be a structural modification (structural hemoglobinopathies) or a decrease in the synthesis of a structurally normal globin chain (thalassemias). Its clinical expression is very variable and early detection is crucial for proper management and genetic counseling. We present a diagnostic lab algorithm for the study of these conditions and the results obtained during its application during one year and four months. The study included 626 samples from patients of several tertiary hospitals in Barcelona and other nearby cities in Catalonia. Screening was performed by means of results of blood cell parameters (mean corpuscular volume, anemia, red blood cell count), HPLC and molecular biology techniques. The diagnosis was made in 83% of the patients (517 samples). In the rest, the algorithm was not completed due to lack of clinical relevance in most cases. Rational and protocolized interpretation of several analytical results highlights the importance of the laboratory in the integrated diagnosis of this type of pathology.

Key words: thalassemia, structural hemoglobinopathy, algorithm, diagnosis.

Pages : 269-276

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