Identification of glucose 6-phosphate dehydrogenase deficiency in a population with a high frequency of thalassemia

Area of Science:

• Human Genetics
• Biochemistry
• Population Health

Background:

• High prevalence of thalassemia trait (5.2%) and glucose 6-phosphate dehydrogenase (G6PD) deficiency (1.3% in males) in the Calabrian population.
• Co-occurrence of G6PD deficiency, thalassemia trait, and total iron serum deficiency observed in the study population.

Purpose of the Study:

• To assess G6PD activity in a Calabrian population with high frequencies of genetic anomalies.
• To determine the most reliable method for evaluating G6PD activity in heterozygous individuals, particularly when co-occurring with thalassemia trait or iron deficiency.

Main Methods:

• Differential pH-metry technique used for G6PD activity measurement.
• Analysis of 1239 whole blood samples from Calabrian subjects (age 10-55).
• Categorization of subjects based on the presence of thalassemia trait, G6PD deficiency, iron deficiency, and their combinations.

Main Results:

• G6PD heterozygous subjects' enzymatic activity can be masked by thalassemia trait and total iron serum deficiency.
• Comparison of G6PD activity in heterozygous subjects with thalassemia trait is more reliable when referenced against carriers of the thalassemia trait.
• This comparative method is more accurate than referencing against G6PD activity in normal subjects.

Conclusions:

• The study highlights the complexity of diagnosing G6PD deficiency in populations with co-existing genetic conditions like thalassemia trait.
• A refined comparative approach is recommended for accurate G6PD activity assessment in heterozygous individuals within such populations.
• Findings have implications for genetic screening and clinical management in regions with high carrier frequencies.