Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica

Area of Science:

• Genetics
• Molecular Biology
• Hematology

Background:

• Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in diverse populations, including Costa Rica.
• Previous reports indicate G6PD deficiency in both black and white populations within Costa Rica.

Purpose of the Study:

• To characterize specific Glucose-6-phosphate dehydrogenase (G6PD) variants found in Costa Rica.
• To investigate the molecular basis of G6PD Puerto Limón and G6PD Santamaria variants and their association with hemolytic anemia.

Main Methods:

• DNA sequencing to identify mutations in the G6PD gene.
• Analysis of nucleotide (nt) and amino acid substitutions.
• Electrophoretic mobility assessment of G6PD variants.

Main Results:

• All 28 G6PD A- samples analyzed were the common G6PD A-376G/202A type.
• G6PD Puerto Limón mutation identified as a G-to-A transition at nt 1192 (glu-to-lys substitution), linked to nonspherocytic hemolytic anemia.
• G6PD Santamaria variant confirmed in white subjects, featuring an A-to-T mutation at nt 542 superimposed on the G6PD A mutation, resulting in normal electrophoretic mobility.

Conclusions:

• Specific G6PD mutations, including G6PD Puerto Limón and G6PD Santamaria, are identified in Costa Rica.
• Mutations in certain G6PD regions are strongly associated with chronic hemolytic anemia.
• The G6PD Santamaria variant demonstrates a complex mutation pattern leading to normal electrophoretic mobility despite underlying G6PD A characteristics.