Preferred Label : Blood group, duffy system;
Symbol : FY;
CISMeF acronym : FY;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Duffy blood group system;
Included titles and symbols : Plasmodium vivax, resistance to;
Description : The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens,
is important in clinical medicine because of transfusion incompatibilities and hemolytic
disease of the newborn. Duffy antigens are located on DARC (613665), an acidic glycoprotein
found on erythrocytes and other cells throughout the body. The 2 principal antigens,
Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see 613665.0001).
Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b):
Fy(a b-), Fy(a-b ), Fy(a b ), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major
phenotype in African and American blacks and is characterized by the presence of Fy(b)
on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype
is associated with complete resistance to infection by the malarial parasite Plasmodium
vivax (see 611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid
silent (FYB-ES) allele with a mutation in the DARC promoter (613665.0002). A fifth
phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes
due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the
FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in
DARC (613665.0003). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by
Pogo and Chaudhuri (2000), Langhi and Bordin (2006), and Meny (2010)).;
Inheritance : Autosomal dominant; Autosomal recessive (null phenotype);
Molecular basis : Caused by mutation in the atypical chemokine receptor 1 gene (ACKR1, 613665.0001);
Prefixed ID : #110700;
Origin ID : 110700;
UMLS CUI : C0013278;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- NCIt concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
