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1.  Incidental finding of monoclonal gammopathy in blood donors: a follow-up study 
Blood Transfusion  2012;10(3):338-343.
The incidental finding of monoclonal immunoglobulin in the sera of healthy blood donors is a relatively frequent event and in such cases the subjects are commonly deferred permanently from donating blood. However, no follow-up studies of these cases have been published so far.
Materials and methods.
Since 2000, all regular blood donors at Trieste Blood Bank have undergone annual screening by serum protein electrophoresis. Cases presenting with monoclonal gammopathy between January 2000 and December 2008 were registered and follow-up was performed until December 2010.
Out of 8,197 regular blood donors, monoclonal gammopathy was detected in 104 subjects (1.3%). The median age at detection was 53 years, the median monoclonal protein concentration was 0.2 g/dL and the cumulative follow-up of these cases amounted to 763 person/years. In two cases asymptomatic multiple myeloma was diagnosed within 6 months of detection of the gammopathy and in 14 cases, the monoclonal gammopathy was transient. The remaining 88 cases were classified as having monoclonal gammopathy of undetermined significance (MGUS). Out of these, two events related to monoclonal gammopathy were observed during the follow up: one lymphoma and one light chain deposition nephropathy.
According to current prognostic staging systems, the majority of blood donors with monoclonal gammopathy were classified as having low-risk MGUS and had a very low incidence of lymphoproliferative diseases. Permanent deferral of blood donors with stable MGUS causes about a 1% loss of potential blood donations and it represents a “precautionary measure” that needs to be substantiated and validated.
PMCID: PMC3417733  PMID: 22507857
monoclonal gammopathy; MGUS; multiple myeloma; blood donor
2.  Association between Protective and Deleterious HLA Alleles with Multiple Sclerosis in Central East Sardinia 
PLoS ONE  2009;4(8):e6526.
The human leukocyte antigen (HLA) complex on chromosome 6p21 has been unambiguously associated with multiple sclerosis (MS). The complex features of the HLA region, especially its high genic content, extreme polymorphism, and extensive linkage disequilibrium, has prevented to resolve the nature of HLA association in MS. We performed a family based association study on the isolated population of the Nuoro province (Sardinia) to clarify the role of HLA genes in MS. The main stage of our study involved an analysis of the ancestral haplotypes A2Cw7B58DR2DQ1 and A30Cw5B18DR3DQ2. On the basis of a multiplicative model, the effect of the first haplotype is protective with an odds ratio (OR) = 0.27 (95% confidence interval CI 0.13–0.57), while that of the second is deleterious, OR 1.78 (95% CI 1.26–2.50). We found both class I (A, Cw, B) and class II (DR, DQ) loci to have an effect on MS susceptibility, but we saw that they act independently from each other. We also performed an exploratory analysis on a set of 796 SNPs in the same HLA region. Our study supports the claim that Class I and Class II loci act independently on MS susceptibility and this has a biological explanation. Also, the analysis of SNPs suggests that there are other HLA genes involved in MS, but replication is needed. This opens up new perspective on the study of MS.
PMCID: PMC2716537  PMID: 19654877

Results 1-2 (2)