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Diagnostic Uses

Physiological Significance

The G6PD gene provides the instructions for marking the glucose-6-phosphate dehydrogenase (G6PDH) enzyme 1. G6PDH is a cytosolic enzyme located on the long arm of the X-chromosome of bodily cells and so is an inherited x-linked disorder. G6PDH is involved in the normal processing of carbohydrate and the prevention of cellular damage from reactive oxygen species (ROS). In doing so, G6PDH provides substrates to prevent oxidative damage. G6PDH plays a critical role in red blood cells, protecting them from damage and premature destruction. The two main products of G6PDH are: ribose-5-phosphatase which is important for DNA, the chemical cousin of RNA; and NADPH which protects the body from ROS ^{1, 2}.

G6PDH Deficiency

Glucose-6-phosphate dehydrogenase (G6PDH/G6PD) deficiency is the most common enzyme deficiency in the pentose phosphate pathway, affecting more than 400 million people globally. G6PDH deficiency is an X-linked recessive disorder mainly affecting RBC's ².

A defect in the G6PDH enzyme results in premature haemolysis (break down of RBC's). If the bone marrow cannot compensate for the reduction of RBC's, haemolytic anaemia can occur. Many individuals that are glucose-6-phosphate dehydrogenase deficient are asymptomatic most of the time, however when they are exposed to certain triggering factors, they can develop acute haemolytic anaemia (AHA), which can be life-threatening, especially in children. Symptoms associated with G6PDH deficiency can include paleness, jaundice, dark urine, fatigue, shortness of breath, a sudden rise in body temperature, lower back pain, splenomegaly (enlarged spleen) and a rapid heart rate. Other symptoms can include nausea, diarrhoea or abdominal discomfort. It has been noted that glucose-6-phosphate dehydrogenase deficiency is a significant cause of mild to severe jaundice in new-borns. Early and accurate diagnosis of G6PDH deficiency is essential in ensuring the successful management of haemolytic anaemia ^{1, 2}.

Malaria

Of all malaria cases reported in Latin America and the Caribbean, 42% are attributed to Brazil. However, in recent years, progress has been made towards the elimination of the malaria burden, reaching the lowest levels in the past 35 years (143, 910 cases and 41 confirmed malaria-related deaths). Whilst the transmission area of malaria has significantly reduced, 99.5% of Brazil's malaria burden is attributed to the Amazon Basin 3. The predominant contributor to the malaria outbreak in Brazil is attributed to the plasmodium vivax parasites which can cause severe and fatal complications in glucose-6-phosphate dehydrogenase (G6PDH) deficient individuals. Individuals infected with malaria are treated with primaquine, however, in G6PDH deficient individuals, this treatment can induce haemolytic anaemia, and so, G6PDH screening is vital ⁴.

A Brazilian study, published in the Malaria Journal prospectively evaluated 516 male volunteers within the Alto do Juruá, an area characterized by a high prevalence of plasmodium vivax, to determine the prevalence of G6PDH. The study found that 4.5% of the study group were G6PDH deficient and were at a high risk of haemolytic anaemia if treated with primaquine. As such, the routine screening of G6PDH deficiency in Brazil to personalize the treatment of patients with vivax malaria, is crucial for malaria elimination ⁴.

COVID-19

Chloroquine, an anti-malaria drug, has been selected to aid in treating those with COVID-19 following preliminary research and a limited study in Australia which highlighted that chloroquine showed promise in eradicating the virus. Moreover, Chinese research highlighted the efficacy and safety of chloroquine in treating pneumonia in COVID-19 patients ⁵.

It is believed that COVID-19 is expected to spread to areas where G6PDH deficiency is more common, however, serious consideration must be given to treatment decisions using chloroquine as chloroquine-induced haemolysis is the result to decreased G6PDH activity ⁶.

Publications

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