Beryl Westwood

Neonatal jaundice in Saudi newborns with G6PD Aures

Sixty-five of 3261 (2%) Saudi neonates were found to be severely G6PD-deficient during a cord blood screening programme conducted from April to December, 1992. However, at the time of molecular studies, the blood samples were available from only 20 randomly selected children, aged from 1 to 6 years. DNA analyses showed that seven (three boys, four girls) of these 20 (35%) had G6PD Aures (nt 143 T - > C), a variant associated with favism which was recently reported in an Algerian. Twelve carried the G6PD Mediterranean (563 T) mutation, and in one child the mutation remained unidentified. The medical records of these children showed that all who had G6PD Aures, including a premature baby, were jaundiced during the 1st week of life, but only six full-term infants had moderate-to-severe hyperbilirubinaemia. Two of seven babies had seizures and one of these two developed kernicterus, in spite of timely blood transfusion.

G6PD Variants in Three South American Ethnic Groups: Population Distribution and Description of Two New Mutations

A review is made of G6PD population surveys conducted in 4,558 European-derived, 2,484 admixed Black/Indian/White or Black/White, and 10,298 Indian subjects living in South America. Despite the fact that twice more Amerindians than Whites had been examined, no autochtonous variant was found among them, while seven different types (besides the most common Gd*B, Gd*A, Gd*A– and Gd*Med) were observed among the Whites. We also describe two new mutations in the G6PD molecule (Farroupilha, 977 C→A and Lages, 40 G→A), bringing the number of mutants characterized to 98. G6PD Lages is the most 5′ mutation detected thus far. G6PD Seattle, previously found in the United States and Italy, seems to occur in other European countries and was observed by us in five independent Brazilian families.

A new polymorphic site in the G6PD gene

SummaryA polymorphic restriction site has been found in intron 11 of the gene for glucose-6-phosphate dehydrogenase (G6PD). This site is produced by a T→C substitution 13 bp upstream of exon 12, producing an NlaIII restriction site. In various populations there was a strong association between a T at nt 1311 of the G6PD cDNA and the presence of the NlaIII restriction site. Among African Americans, however, the presence of a C at nt 1311 was sometimes associated with the presence of a polymorphic NlaIII site.

Glucose-6-phosphate dehydrogenase Durham : A de novo mutation associated with chronic hemolytic anemia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham713G, that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham713G variant has a unique biochemical and enzymatic profile and a novel A-->G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham713G resulted from a de novo mutation.