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Biomedical subjects

C West

Publications and source records attributed to C West.

At least 181 records · Page 10Linked to original sources
PubMed1970

Glucose-6-phosphate dehydrogenase deficiency and chronic haemolysis in an English family.

Three male members of an English family with chronic haemolytic anaemia due to glucose-6-phosphate dehydrogenase deficiency are reported. The disease was symptomless in one adult, but crises, caused either by increased haemolysis or failure of marrow compensation, occurred in two children. They were typically precipitated by trivial infection. Two normal female members of the family were obligatory heterozygotes. A hitherto undescribed ;slow' variant of the enzyme was identified electrophoretically.

Anemia, Hemolytic↗
PubMedDate not supplied

Mutation analysis of the transferrin receptor-2 gene in patients with iron overload.

Three mutations in the transferrin receptor-2 gene have recently been identified in four Sicilian families with iron overload who had a normal hemochromatosis gene, HFE (C. Camaschella, personal communication). To determine the extent to which mutations in the transferrin receptor-2 gene occur in other populations with iron overload, we have completely sequenced this gene in 17 whites, 10 Asians, and 8 African Americans with iron overload and a C282C/C282C HFE genotype, as well as 4 subjects without iron overload and homozygous for the mutant HFE C282Y genotype, 5 patients with iron overload and homozygous for the mutant HFE C282Y genotype, and 5 normal individuals. None of the individuals exhibited the Sicilian mutations, Y250X in exon 6, M172K in exon 4, and E60X in exon 2. One iron-overloaded individual of Asian descent exhibited a I238M mutation which was subsequently found to be a polymorphism present in the Asian population at a frequency of 0.0192. The presence of the I238M mutation was not associated with an increase in ferritin or transferrin saturation levels. Three silent polymorphisms were also identified, nt 1770 (D590D) and nt 1851 (A617A) and a polymorphism at nt 2255 in the 3' UTR. Thus, mutations in the transferrin receptor-2 gene were not responsible for the iron overload seen in our subjects.

DNA Mutational Analysis↗
PubMedDate not supplied

The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet.

When rhinoceros species that are browsers in the wild are fed in captivity they become iron overloaded. Presumably, their iron-absorptive mechanisms have evolved to become highly efficient. In humans, mutations of the HFE gene cause increased iron absorption. To determine whether the HFE gene of rhinoceroses has undergone mutation as an adaptive mechanism to improve iron absorption from iron-poor diets, we have sequenced the entire coding region of the HFE genes of four species of rhinoceros. Two of these were browsing species and two were grazing species. Although the HFE gene has been well preserved across species, numerous nucleotide differences were found between rhinoceros and human or mouse, some of which changed deduced amino acids. Of these mutations, only one found in the black rhinoceros appears to be a viable candidate mutation that might adversely affect HFE function. This mutation, S88T, is in a highly conserved region that is involved in the interaction between transferrin receptor and HFE.

Adaptation, Physiological↗