Duffy-null variant and practical implications for patient care: a scoping review

Area of Science:

• Genetics and Human Health
• Infectious Disease Epidemiology
• Hematology

Background:

• The Duffy-null variant is a genetic trait with known associations to malaria resistance.
• Its clinical implications beyond malaria are less understood, necessitating a comprehensive review.

Purpose of the Study:

• To systematically review and map existing research on clinical associations with the Duffy-null variant.
• To identify gaps in knowledge regarding the practical application of these associations in healthcare.

Main Methods:

• A scoping review of the literature was conducted using major scientific databases (PubMed, Embase, CINAHL, Web of Science).
• Studies published between January 2000 and June 2024 were included if they examined clinically relevant associations with the Duffy-null variant.
• Data extraction focused on study characteristics, outcomes, and findings, followed by qualitative synthesis.

Main Results:

• Of 44 included studies, the most frequent association explored was resistance to Plasmodium vivax malaria.
• Established associations include the Duffy-null variant with asymptomatic lower absolute neutrophil count (ANC) and P. vivax malaria resistance.
• No studies investigated practical clinical applications, such as Duffy-genotype adjusted ANC thresholds for chemotherapy patients.

Conclusions:

• While associations with lower ANC and malaria resistance are supported, their clinical utility is not well-defined.
• Future research should prioritize biologically plausible associations with clear clinical relevance.
• Investigating safe ANC values for clinical trials and medication management in Duffy-null individuals is recommended.