RESUMEN
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.
Asunto(s)
Sustitución de Aminoácidos , Hemoglobina Falciforme/genética , Hemoglobinas Anormales/genética , Mutación , Globinas beta/genética , Argentina , Secuencia de Bases , Niño , Análisis Mutacional de ADN , Salud de la Familia , Humanos , Masculino , Modelos Moleculares , Estructura Secundaria de Proteína , Globinas beta/químicaAsunto(s)
Globinas/genética , Eliminación de Secuencia , Talasemia alfa/epidemiología , Alelos , Argentina/epidemiología , Efecto Fundador , Genotipo , Globinas/deficiencia , Humanos , Indígenas Sudamericanos/genética , Recién Nacido , Tamizaje Neonatal , Prevalencia , España/etnología , Población Blanca/genética , Talasemia alfa/sangre , Talasemia alfa/genéticaAsunto(s)
Hemoglobinas Anormales/genética , Argentina , Cartilla de ADN , Electroforesis , Femenino , Humanos , Embarazo , Análisis de Secuencia de ADNRESUMEN
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.
Asunto(s)
Humanos , Femenino , Recién Nacido , Sangre Fetal/química , Índices de Eritrocitos , Eritrocitos , Hemoglobina Fetal/análisis , Hematócrito , Hemoglobina A2/análisis , Hemoglobinas/análisis , FumarRESUMEN
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)