Abstract

URIBE ARDILA, ALFREDO. GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN COLOMBIA: MEMORIES OF TWENTY-TWO YEARS OF HIGH RISK SCREENING. Rev. Med [online]. 2017, vol.25, n.2, pp.7-21. ISSN 0121-5256.

Deficiency of Glucose-6 -Phosphate Dehydrogenase is an inherited disorder of X-linked metabolism, as the metabolic disease of the world's largest frequency with more than 400 million affected individuals, is the most common cause of non-autoimmune hemolytic anemia of metabolic origin. The prevalence calculated for Colombia according to the world health organization is between 3 and 7%, but the reports of population studies are scarce, creating the need to include this deficiency in a neonatal screening program, closer to 11% population is Afro-descendant that without the miscegenation, can offer a greater frequency of deficiency in certain regions of the country.

The present study provides an overview of the prevalence of erythrocyte enzyme disease in the population with chronic or episodic hemolytic anemia of non-immune nature from different parts of the national territory. lt comprises the evaluation of 3837 samples during the period 1998 to 2016, a total of 1801 controls and 2036 individuals (982 men / 1054 women, age range: 1 week to 91 years) with suggestive findings of this metabolic condition.

The results found, offer a prevalence of 7% of the deficiency with variable degrees of residual activity. The overall range of the control groups ranged from 3.31 - 9.98 lU / g HB, contrasting against the group of affected (n = 144) who offered a value of 0.0 - 2.97, 67% = 96 ) corresponds to affected males. These findings highlight the importance of including this erythrocyte enzyme disease in a neonatal screening program.

Keywords : Hemolytic anemia; Glucose 6-phosphate dehydrogenase; erythrocyte oxidative stress; Erythroenzy-mopathies.

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