Abstract

AUDICIO, Paola; SEGOBIA, Betsey; QUEIJO, Cecilia  and  QUEIRUGA, Graciela. Newborn Screening Pilot Program of Hemoglobinopathies. Acta bioquím. clín. latinoam. [online]. 2017, vol.51, n.2, pp.243-248. ISSN 0325-2957.

Hemoglobinopathies are the most frequent monogenic disorder and cause an important worldwide morbidity and mortality. In January 2013, the Newborn Screening Laboratory started a Pilot Program with the objective to know the incidence of these diseases in the Uruguayan population, in order to decrease the impact of these pathologies with implementation of early treatment. The Newborn Screening Pilot Program for Hemoglobinopathies is presented in this paper through the results obtained during the January 2013 to December 2014. During this period, dried blood spots taken from all newborns within 40 hrs. of life in Uruguay were processed. The samples were analyzed with HPLC-CE (Vaniant Nbs, BIORAD). An incidence of 1/26,000 for pathologic cases and 1/180 carriers for some hemoglobin variants was found. The incidence of carriers found by department correlates with the afro descendant population rate from the last census.

Keywords : Hemoglobinopathies; Newborn screening; Sickle cell disease.

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