Blood Group, Duffy System; Fy

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ACKR1 (OMIM ), or DARC, 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)).

Genes related to Blood Group, Duffy System; Fy

ACKR1

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Clinical Features

Phenotypes and symptoms related to Blood Group, Duffy System; Fy

Abnormality of metabolism/homeostasis
Abnormality of the immune system

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Blood Group, Duffy System; Fy Is also known as duffy blood group system.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Blood Group, Duffy System; Fy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AllNeuro panel. By Centogene AG - the Rare Disease Company (Germany). BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...) View the complete list with 1177 more genes Panel complete gene list BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, AIMP1, SDCCAG8, SDHA, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SIX6, SKI, DST, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC22A5, BRAF, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC3A1, SLC4A4, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNX3, SOD1, SORL1, SOS1, SOX10, SOX3, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, TAF1, TAF2, TARDBP, TAZ, TBCE, TBX1, TWNK, TCAP, TCF4, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TH, ACO2, TIMM8A, NKX2-1, TK2, TLR3, TLR5, TSPAN7, TNF, ACOX1, TNFSF4, TNNT1, MED12, GIGYF2, TPM2, TPM3, TRAF3, 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PLP1, ACADSB, PMM2, PMP22, PRRX1, PHOX2B, PNKD, PNKP, POLG, POLG2, ACADVL, POMT1, B4GALT1, ACAT1, PPT1, PQBP1, PRKAG2, BAG3, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPS1, HTRA1, PRSS12, PSAP, SLC33A1, PSEN1, PSEN2, TAS2R38, PTCH1, PTEN, PTPN11, BBS1, BBS2, PTS, BBS4, BBS5, NECTIN1, PEX19, PEX2, PEX5, ALDH18A1, PYGM, QARS, QDPR, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, BCKDHA, RAPSN, BCKDHB, RBBP8, RBM10, RBM8A, PRPH2, RELN, RET Specificity 1 % Genes 100 %
Defects of phagocytosis Panel. By CeGaT GmbH (Germany). STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...) View the complete list with 39 more genes Panel complete gene list STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B, FERMT3, CSF2RA, CSF3R, G6PC3, CTSC, CXCR4, CYBA, CYBB, USB1, JAGN1, MLPH, DNM2, LAMTOR2, SLC46A1, ELANE, FCGR3B, FPR1, ACKR1, ISG15, SLC37A4, GATA1, GATA2, GFI1, HFE, HPS1, IRF8, IFNGR1, IFNGR2, AP3B1, IL12B, IL12RB1, ITGB2, MPO, MYO5A, NCF1, NCF2, NCF4, RAB27A, RAC2 Specificity 2 % Genes 100 %
Duffy (Fya/Fyb). By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). ACKR1 Specificity 100 % Genes 100 %
Red Cell Genotyping Panel. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti (United States). RHCE, RHD, SLC14A1, ACKR1, GYPA, GYPB, KEL, BCAM, ART4 Specificity 12 % Genes 100 %
ACKR1. By Fulgent Genetics Fulgent Genetics (United States). ACKR1 Specificity 100 % Genes 100 %

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Sources and references

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