Subject(s)
Blood Donors , Erythrocyte Transfusion , Hepatitis C/transmission , Transfusion Reaction , HumansABSTRACT
Typing of both SAHH and ADA red cell electrophoretic patterns was carried out among the members of about 80 families from Latium (Central Italy) and in a random sample of about 350 individuals from two Italian regions, Latium and Sardinia. 1. The SAHH1 enzyme product provided another interesting example of a change in the electrophoretic pattern brought about by the haemolysate ageing. In vitro storage of SAHH 1 red cell lysates leads to the production of a pattern similar to that expected from a heterozygote SAHH 2-1. This change has been shown to be abolished by pretreating the sample with mercaptoethanol. The results indicate that the systematic use of sulphydril reducing agents can provide a more reliable means of analysing the SAHH polymorphism if differently stored samples are to be compared by starch gel electrophoresis. 2. Evidence against complete linkage of the SAHH and ADA loci has been obtained from two informative SAHH/ADA matings encountered in this study. 3. The SAHH allele frequencies observed in the two samples analysed were: SAHH1 = 0.969, SAHH2 = 0.024, SAHH3 = 0.007 (Latium) and SAHH1 = 0.973, SAHH2 = 0.011, SAHH3 = 0.016 (Sardinia). 4. The ADA2 allele frequency estimates were: 0.083 (Latium) and 0.059 (Sardinia). These figures are almost identical to those already reported for the same two regions.
Subject(s)
Adenosine Deaminase/genetics , Genetics, Population , Hydrolases/genetics , Nucleoside Deaminases/genetics , Polymorphism, Genetic , Adenosylhomocysteinase , Alleles , Erythrocytes/enzymology , Humans , Isoenzymes/genetics , Italy , Pedigree , PhenotypeABSTRACT
Twenty-four patients affected by beta-thalassemia major were studied by means of combined EEG, VEP and BAEP recordings. All the subjects were treated with regular blood transfusions and chelating therapy (DFO). An elevated incidence of EEG abnormalities (70.8%) consisting of diffused slow waves and/or diffused small sharp spikes was seen. VEP P100 latency was abnormally prolonged in eight patients (33.3%). Furthermore, a voltage increase of N75-P100 (29%) and P100-N145 (33.3%) VEP components was observed. Mean latency and voltage values were significantly increased when compared with those of a control group. No BAEP alterations were observed. No correlations were found between electrophysiological data, serum ferritin levels and transfusional treatment duration. The possible mechanisms involved in provoking such electrophysiological abnormalities are discussed.
Subject(s)
Brain/physiopathology , Thalassemia/physiopathology , Adolescent , Adult , Audiometry , Child , Electroencephalography , Evoked Potentials, Auditory , Evoked Potentials, Visual , Female , Humans , Male , Thalassemia/therapy , Vision TestsABSTRACT
We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10 different deletional or nondeletional alpha-thalassemia haplotypes, some of which have been already described in the Mediterranean area (--Med,-(alpha)20.5,-alpha 3.7 type I,-alpha 3.7 type II, alpha 2 NcoI alpha 1, alpha 2 HphI alpha 1). Among the new mutations found in the course of our study, there is a complete deletion of the zeta-alpha cluster and three nondeletional determinants (alpha alpha T), affecting to various extents alpha-globin gene expression. The different alpha-thalassemia haplotypes are not evenly distributed throughout the country. Two alpha 0 determinants [-(alpha)20.5 and the complete deletion of the zeta-alpha cluster] and four alpha + determinants (-alpha 3.7 type II, three nondeletional alpha alpha T mutations) are found exclusively in southern Italy.
