Una variante emoglobinica rara
A rare hemoglobin variant

AUTORI

ABSTRACT

A rare hemoglobin variant.

When arrived to our observation, BS was an African origin newborn of a few days. His hemoglobin concentration and complete blood count were within normal ranges, and he had no jaundice; however, his parents are heterozygous carriers of hemoglobin variant: HbC trait the mother and HbS trait the father. Screening was therefore required for hemoglobin variants. The request is appropriate since the evidence of a double heterozygosis S/C (SCD) would allow timely treatment of these patients. Screening was performed in capillary electrophoresis but was not conclusive because the presence of a small concentration of HbS and of another variant did us not allow to make a diagnosis, although the presence of HbA allowed to exclude the state of SCD. Hemoglobin electrophoresis was then performed, but it was not conclusive. It was necessary resorting to the molecular analysis, that highlights the presence of HbS trait and a mutation in heterozygosis at the charge of the gamma-globin chain consistent with HbF Granada. The recognition of HbF Granada was meaningless from a clinical point of view, but allowed to exclude the presence of a hemoglobin compound, the main clinical question of this clinical case.

BIBLIOGRAFIA