Molecular identification of rare FY*Null and FY*X alleles in Caucasian thalassemic family from Sardinia.
Molecular genetic studies on Duffy blood group antigens have identified mutations underlying rare FY*Null and FY*X alleles. FY*Null has a high frequency in Blacks, especially from sub-Saharan Africa, while its frequency is not defined in Caucasians. FY*X allele, associated with Fy(a-b+w) phenotype, has a frequency of 2-3.5% in Caucasian people while it is absent in Blacks. During the project of extensive blood group genotyping in patients affected by hemoglobinopathies, we identified FY*X/FY*Null and FY*A/FY*Null genotypes in a Caucasian thalassemic family from Sardinia. We speculate on the frequency of FY*X and FY*Null alleles in Caucasian and Black people; further, we focused on the association of FY*X allele with weak Fyb antigen expression on red blood cells and its identification performing high sensitivity serological typing methods or genotyping.
Immunohematology and Transfusion Service, Policlinico S.Orsola-Malpighi, Via Massarenti, 9, 40138 Bologna, Italy. Electronic address: silvia.manfroi@aosp.bo.it.
Silvia
S
Manfroi
Immunohematology and Transfusion Service, Policlinico S.Orsola-Malpighi, Via Massarenti, 9, 40138 Bologna, Italy.
Antonio
A
Scarcello
Immunohematology and Transfusion Service, Policlinico S.Orsola-Malpighi, Via Massarenti, 9, 40138 Bologna, Italy.
Pasqualepaolo
P
Pagliaro
D000483:Alleles; D004375:Duffy Blood-Group System / Q000235:genetics*; D005190:Family; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D011956:Receptors, Cell Surface / Q000235:genetics*; D013789:Thalassemia / Q000235:genetics*; D044465:White People
C473745:ACKR1 protein, human; D004375:Duffy Blood-Group System; D011956:Receptors, Cell Surface
Duffy blood group; FY*Null; FY*X; Positive selection