RESUMO
A new sickling hemoglobin (Hb) detected in an Argentinean family from San Martín, Buenos Aires, Argentina, is hereby described. Two mutations were identified on the same ß-globin gene resulting in a new variant named Hb San Martin. One mutation was found on exon 1, corresponding to Hb S [ß6GluâVal, GAG>GTG] and the second one on exon 3 at ß105(G7)LeuâPro, CTC>CCC. The replacement of leucine by proline will likely impair the structure breaking helix G and causing instability of the molecule and the clinical manifestations typical of unstable Hbs. The mutation at ß105 seemed to be a de novo one in our patients, arising on a previously mutated gene, due to the fact that Hb S is the most frequent structural variant.
Assuntos
Substituição de Aminoácidos , Hemoglobina Falciforme/genética , Hemoglobinas Anormais/genética , Mutação , Globinas beta/genética , Argentina , Sequência de Bases , Criança , Análise Mutacional de DNA , Saúde da Família , Humanos , Masculino , Modelos Moleculares , Estrutura Secundária de Proteína , Globinas beta/químicaAssuntos
Globinas/genética , Deleção de Sequência , Talassemia alfa/epidemiologia , Alelos , Argentina/epidemiologia , Efeito Fundador , Genótipo , Globinas/deficiência , Humanos , Indígenas Sul-Americanos/genética , Recém-Nascido , Triagem Neonatal , Prevalência , Espanha/etnologia , População Branca/genética , Talassemia alfa/sangue , Talassemia alfa/genéticaRESUMO
Hematological parameters in newborn umbilical cord blood samples (n=476), collected at the Hospital Provincial del Centenario, Rosario, were studied. They were divided into 3 groups: (I) full term newborns with weight according to gestational age; II) low weight and normal gestational age; (III) preterm newborns. The results were as follows: group (I) Hb: 15.5 + 1.1 g/dl; RBC: 4.66 + 0.33 x 1012/I; PCV:49 + 4.3 percent, MCV 105.1 + 5.3 fl; MHC: 33.2 + 1.2 pg. Decreased Hb concentration (p<0.05) and increased MCV (p<0.01) were observed in preterm newborns in comparison with normal ones, and a slight PCV increase and RBC values in low weight newborns compared to the control group (p<0.05). Erytrocyte morphology was normal as well as reticulocyte values in these samples. The electrophoretic pattern was (FA) with the following Hb F values 66.3 + 6.8 percent, and Hb A2 0.45 + 0.3 percent in group (I), with a significant increase of Hb F in 30-35 weeks preterm newborns. Group(I) values are considered as normal hematological parameters in newborns in our country, whereas MCV< 94.7 fl is considered as a neonatal microcytosis marker, consequently an alert to investigate alpha-thalassemia. There was no influence on Hb concentration due to maternal smoking habit. The present work could be of relevance for our region since up to the present time there are no similar records. (AU)
Assuntos
Humanos , Feminino , Recém-Nascido , Sangue Fetal/química , Eritrócitos , Hematócrito , Hemoglobinas/análise , Hemoglobina Fetal/análise , Hemoglobina A2/análise , Índices de Eritrócitos , TabagismoRESUMO
Hematological parameters in newborn umbilical cord blood samples (n=476), collected at the Hospital Provincial del Centenario, Rosario, were studied. They were divided into 3 groups: (I) full term newborns with weight according to gestational age; II) low weight and normal gestational age; (III) preterm newborns. The results were as follows: group (I) Hb: 15.5 + 1.1 g/dl; RBC: 4.66 + 0.33 x 1012/I; PCV:49 + 4.3 percent, MCV 105.1 + 5.3 fl; MHC: 33.2 + 1.2 pg. Decreased Hb concentration (p<0.05) and increased MCV (p<0.01) were observed in preterm newborns in comparison with normal ones, and a slight PCV increase and RBC values in low weight newborns compared to the control group (p<0.05). Erytrocyte morphology was normal as well as reticulocyte values in these samples. The electrophoretic pattern was (FA) with the following Hb F values 66.3 + 6.8 percent, and Hb A2 0.45 + 0.3 percent in group (I), with a significant increase of Hb F in 30-35 weeks preterm newborns. Group(I) values are considered as normal hematological parameters in newborns in our country, whereas MCV< 94.7 fl is considered as a neonatal microcytosis marker, consequently an alert to investigate alpha-thalassemia. There was no influence on Hb concentration due to maternal smoking habit. The present work could be of relevance for our region since up to the present time there are no similar records.
