Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [ß6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].

We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [ß6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).

Microstructural characacterization of shell components in the mollusc Physa sp.

Shells of the freshwater, pulmonate snail Physa (Mollusca, Gasteropoda), ranging from 0.5 to 10 mm in length, were studied using scanning microscopy, x-ray analysis, and infrared spectroscopy. Results obtained suggest that the shell is composed of aragonite, which occurs in several distinct crystalline forms. A selective distribution of crystalline forms (hexagonal plates, prisms, rhombohedra, and spherulites) occurred along specific sites of the shell. A variable distribution of the forms was also detected in adult shells and in protoconchs of developing embryos. Qualitative elemental analysis, using an energy-dispersive spectrometer, corroborates the presence of calcium, phosphorus and sulphur ions.