Maximal γ-globin expression in the compound heterozygous state for –175 ^Gγ HPFH and β⁰39 nonsense thalassaemia: a case study

The –175 (T→C) Gγ hereditary persistence of fetal haemoglobin is a very rare promoter mutation occurring in Caucasians as well as in African-Americans. Heterozygotes for this non-deletional HPFH show 20% HbF, mostly of Gγ type. We describe here a healthy Sardinian man who coinherited –175 (T→C) Gγ HPFH with the β-thalassaemia codon 39 nonsense mutation in trans; he showed 64% HbF, 100% of Gγ type. Although the β-globin haplotype pattern (II/II) was indicative of the presence of the AγT allele on both chromosomes, the AγT expression was undetectable by HPLC even in red cell populations separated by age. The proband was, moreover, homozygous for the –4 bp deletion at position -225 to -222 of Aγ promoter which has recently been associated with decreased AγT globin expression. These findings suggest that this maximal overexpression of Gγ-globin probably reflects intensified stimulation of the mutated Gγ promoter in this hitherto undescribed genetic condition

Environmental analysis of productive chain of an oleaginous Camelina (Camelina sativa) for the production of bio products

This study evaluated the environmental impact of renewable jet fuel derived from Camelina oil. The indicator chosen is the Global Warming Potential (GWP) of the functional unit (1 MJ of Jet Fuel) and its associated by-products. The impacts of the farming were determined with agronomic and qualitative data obtained as part of the SUSCACE project activities on the cultivation of Camelina in Pisa and Bologna. As source of secondary data was used several publications and BioGrace, while the impact assessment of the downstream sector from farming to pressure extraction was performed, according to IPCC, taking into account the transformation processes implemented for the exploitation of by-products obtained along the entire production chain as well as transportation. The results of the LCA of considered chains were compared with those of equivalent conventional products. Regarding the cultivation phase of Camelina, the impact related to the functional unit in Bologna is found to be on average 28% higher than that in Pisa, as consequence of a greater diesel requirement (30 % lower in Pisa), and its lower yield (41% lower than Pisa). However, it is relevant to show that N requirements of Bologna were considerably lower than Pisa. Consequently, N2O emissions are lower with significant repercussions on the impact of the final product and on each production step. Regarding the end life scenario the advantage of bio-products derives from their biodegradability that substantially reduces or eliminates the disposal processes and their lower toxicity when it is compared to fossil-based product

Hb Tigraye [β79(EF3)Asp→His] in a Caucasian family from Sardinia

We describe here the occurrence of the Hb Tigraye, or beta79(EF3)Asp→His, first discovered in a healthy male of Ethiopian descent, in four members of a Sardinian family, two adults and two newborns, providing additional biochemical and molecular data. Sequencing of the beta globin gene showed the presence of the GAC→CAC mutation at the level of codon 79

Fetal hemoglobin expression in compound heterozygotes for -117 (G→A) ^Aγ HPFH and β⁰39 nonsense thalassemia

The-117(G→A) Aγ hereditary persistence of fetal hemoglobin (Greek HPFH) and β039-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these defects indicated that HPFH was linked to haplotype VII and β039-thal to haplotype II. Haplotype II β039-thal chromosome carries the AγT gene which is a useful marker of γ-gene expression. Since the Hb F level in these compound heterozygotes was significantly higher than in 46 -117 HPFH carriers, the Aγt, and Gγ globin level was determined. AγT was underexpressed while Gγ was significantly increased, which suggests that in -117 Aγ HPFH/β039-thal healthy subjects the increase in Hb F production is determined only by the -117 mutated Aγ gene and the adjacent Gγ gene