G6PD Deficiency Overview

What is the most common manifestation of G6PD deficiency?

Which of the following drugs is NOT listed as potentially eliciting hemolysis in individuals with G6PD deficiency?

In individuals with G6PD deficiency, what is the typical timeframe for the onset of hemolysis after ingesting a substance with oxidant properties?

Which of the following statements about favism is NOT true?

What is the typical finding in unstained or supravital preparations of red blood cells during an episode of acute hemolysis in G6PD deficiency?

What is the primary function of G6PD enzyme?

Why do most heterozygous females not experience clinical hemolysis after exposure to oxidant drugs?

In which population is the variant G6PD A− enzyme commonly found?

What is the incidence range of the G6PD B− variant in certain ethnic groups?

Which population has approximately 5% with the G6PD Canton mutant enzyme?

G6PD Deficiency Overview

The most common manifestation of G6PD deficiency is hemolytic anemia, especially after exposure to oxidative stress.
A variety of drugs and substances can trigger hemolysis in individuals with G6PD deficiency, but some specific medications do not elicit this response.

Hemolysis and Substances

Hemolysis typically occurs within 24 to 48 hours after ingesting substances with oxidant properties, such as certain medications or foods.
Favism, a condition resulting from the ingestion of fava beans in susceptible individuals, is associated with G6PD deficiency. Some statements about favism may be misleading or incorrect.

Laboratory Findings

During an acute hemolysis episode in G6PD deficiency, typical findings in unstained or supravital preparations of red blood cells include denatured hemoglobin and bite cells.

Enzyme Function and Genetic Aspects

G6PD enzyme plays a critical role in the pentose phosphate pathway, providing reducing equivalents to protect red blood cells from oxidative damage.
Most heterozygous females do not experience clinical hemolysis due to a random X-chromosome inactivation, which results in a mix of normal and deficient cells.

Genetic Variants and Populations

The G6PD A− variant is commonly found in populations of African and Mediterranean descent.
The incidence range of the G6PD B− variant varies, with higher prevalence noted in certain ethnic groups, particularly in the Mediterranean and parts of Asia.
Approximately 5% of individuals in specific populations, such as those from Southern China, possess the G6PD Canton mutant enzyme.

Learn about G6PD deficiency, an X-linked disease with over 140 mutations affecting more than 400 million people worldwide. Discover how G6PD catalyzes the conversion of glucose 6-phosphate and its role in providing protection against oxidant threats.