14
views
0
recommends
+1 Recommend
1 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Erythrocyte glucose-6-phosphate dehydrogenase deficiency in male newborn babies and its relationship with neonatal jaundice Translated title: Deficiência de glicose-6-fosfato desidrogenase eritrocitária em recém-nascidos do sexo masculino e sua relação com a icterícia neonatal

      research-article

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the commonest red cell enzymopathy in humans, has an X-linked inheritance. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic nonspherocytic hemolytic anemia. The incidence of neonatal hyperbilirubinemia is much greater in G6PD-deficient neonates than babies without this deficiency. The aim of this study was to ascertain the presence of neonatal jaundice in erythrocyte G6PD-deficient male newborns. Samples of umbilical cord blood from a total of 204 male newborns of the Januário Cicco School Maternity located in Natal, Rio Grande do Norte, Brazil were analyzed. The G6PD deficiency was identified by the methemoglobin reduction test (Brewer's test). The deficiency was confirmed by quantitative spectrophotometric assay for enzyme activity and cellulose acetate electrophoresis was used to identify the G6PD variant. Eight newborns were found to be G6PD deficient with four of them exhibiting jaundice during the first 48 hours after birth with bilirubin levels higher than 10 mg/dL. All deficient individuals presented the G6PD A- variant at electrophoresis. Our findings confirmed the association between G6PD deficiency and neonatal jaundice. Hence, early diagnosis of the deficiency at birth is essential to control the appearance of jaundice and to prevent the exposure of these newborns to known hemolytic agents.

          Translated abstract

          A deficiência de glicose-6-fosfato desidrogenase (G6PD) é a anormalidade enzimática hereditária mais frequente. É transmitida como caráter recessivo ligado ao cromossomo X e as principais manifestações clínicas são hemólise induzida por fármacos, icterícia neonatal e anemia hemolítica não esferocítica. O objetivo do estudo foi determinar a presença de icterícia neonatal em recém-nascidos do sexo masculino deficientes de glicose-6-fosfato desidrogenase. Foram analisadas 204 amostras de sangue umbilical de recém-nascidos do sexo masculino provenientes da Maternidade Escola Januário Cicco em Natal, Rio Grande do Norte. A deficiência da glicose-6-fosfato desidrogenase foi determinada através do método qualitativo da redução da metahemoglobina (teste de Brewer) e confirmada mediante determinação espectrofotométrica quantitativa da atividade da G6PD e pela eletroforese da enzima em acetato de celulose. Oito recém-nascidos apresentaram deficiência da G6PD, e quatro deles exibiram icterícia nas primeiras 48 horas depois do nascimento, com valores de bilirrubina maiores de 10 mg/dL. Todos os deficientes apresentaram a variante A-. Os dados encontrados confirmam a associação da deficiência da G6PD e a icterícia neonatal. Assim sendo, o diagnóstico precoce da deficiência logo após o nascimento é essencial ao controle do aparecimento da icterícia e para evitar o contato destes recém-nascidos com conhecidos agentes hemolíticos.

          Related collections

          Most cited references28

          • Record: found
          • Abstract: not found
          • Article: not found

          G6PD deficiency

          E Beutler (1994)
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Red Cell Metabolism, a Manual of Biochemical Methods

              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Glucose-6-phosphate dehydrogenase deficiency.

              Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. Because its gene locus is on the X-chromosome it is more common in males than females in all populations. Prevalence rates vary from 62% among Kurdish Jews to the very low rates (0.1% or less in Japan, for example), which are compatible with sporadic cases arising from spontaneous mutations. However, there is at least one population in which G6PD deficiency has not been found, namely the indigenous (Amerindian) population of America. Approximately 400 variants have been described. Despite the clinical burden imposed by this enzymopathy, polymorphic frequencies have been reached in many populations. There is abundant epidemiological evidence that this has happened because of a biological advantage conferred on heterozygotes in falciparum malaria endemic areas. This advantage may apply to quartan malaria as well. Clinical severity varies, from the rare chronic nonspherocytic haemolytic anaemia to progressively milder forms like the Mediterranean and A- types. The other clinical syndromes, i.e. neonatal jaundice and haemolysis caused by infections, foods, drugs and chemicals, are not always predictable. This is because only a fraction of such enzymopathic persons develop these syndromes after exposure to the relevant stimulus. Modern techniques of molecular biology may elucidate why this is so. There is some emerging evidence that the genetic burden or survival value associated with G6PD deficiency may be relevant not only in tropical and infectious diseases, but also in their chemotherapy (e.g. malaria) as well as in the control of a long-recognized environmental pollutant such as lead.
                Bookmark

                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                rbhh
                Revista Brasileira de Hematologia e Hemoterapia
                Rev. Bras. Hematol. Hemoter.
                Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular (São Paulo )
                1806-0870
                2010
                : 32
                : 6
                : 434-438
                Affiliations
                [1 ] Universidade Federal do Rio Grande do Norte Brazil
                [2 ] Universidade Federal do Rio Grande do Norte Brazil
                [3 ] Universidade Federal do Rio Grande do Norte Brazil
                [4 ] Universidade Federal do Rio Grande do Norte Brazil
                [5 ] Universidade de São Paulo Brazil
                [6 ] Universidade Federal do Rio Grande do Norte Brazil
                Article
                S1516-84842010000600005
                efced416-6341-40e6-90c5-ad89ba102a8f

                http://creativecommons.org/licenses/by/4.0/

                History
                Product

                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=1516-8484&lng=en
                Categories
                HEMATOLOGY
                MEDICINE, RESEARCH & EXPERIMENTAL

                Medicine,Hematology
                Glucosephosphate dehydrogenase,infant, newborn,jaundice,hyperbilirubinemia,Glucosefosfato desidrogenase,recém-nascido,icterícia neonatal,hiperbilirrubinemia

                Comments

                Comment on this article