ABSTRACT
Prevalence of alpha gene triplication or deletion in beta-thalassemia carriers was studied in 109 unrelated individuals in Rosario, Argentina. In different populations -alpha(3.7) allele presents a higher prevalence than alphaalphaalpha(anti3.7); thus, alpha-thalassemia associated with beta-thalassemia is more frequently observed. Nevertheless, this event was detected in only one case (0.9%), while the association with alpha triplication was present in two subjects (1.8%).
Subject(s)
Gene Deletion , Gene Duplication , Globins/genetics , alpha-Thalassemia/genetics , Adult , Alleles , Argentina/epidemiology , Blood Cell Count , Child , Female , Hemoglobins/metabolism , Heterozygote , Humans , Infant , Male , Prevalence , alpha-Thalassemia/blood , alpha-Thalassemia/epidemiologySubject(s)
Mutation/genetics , beta-Thalassemia/epidemiology , beta-Thalassemia/genetics , Amino Acid Substitution , Argentina/epidemiology , DNA Mutational Analysis , Family Health , Gene Frequency , Greece/ethnology , Heterozygote , Humans , Italy/ethnology , Spain/ethnology , beta-Thalassemia/ethnologyABSTRACT
The present work describes modification of a widely used salting-out procedure to rapidly extract DNA suitable for PCR, using the ARMS method to amplify a target sequence in the beta-globin gene. The salting-out DNA extraction procedure did not completely remove or decrease the presence of inhibitors to PCR in a considerable number of cord blood samples. By introducing a simple phenol/chloroform step, before ethanol precipitation of the nucleic acid, to certain samples, we were able to eliminate or substantially reduce the presence of inhibitors to PCR without having to re-extract the samples.
Subject(s)
Blood Cells/chemistry , DNA/blood , Fetal Blood/cytology , Globins/genetics , Chemical Precipitation , Chloroform , Electrophoresis, Agar Gel , Ethanol , Ethidium , Humans , Indicators and Reagents , Infant, Newborn , Phenol , Polymerase Chain Reaction , SpectrophotometrySubject(s)
Hemoglobinopathies/diagnosis , Neonatal Screening/methods , Argentina , Humans , Infant, NewbornABSTRACT
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 10(12)/l; PCV: 49% +/- 4.3%, 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). Erythrocyte 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%, and Hb A2 0.45 +/- 0.3% 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.
