Description of the first case of  c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele: c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele

Luca Collodel; Gianluca Gessoni; Tommaso Mancuso

doi:10.2450/BloodTransfus.807

Letter to the Editor

Vol. 22 No. 5 (2024): Blood Transfusion 5-2024 (September-October)

Description of the first case of c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele

Luca Collodel , Gianluca Gessoni , Tommaso Mancuso

Key words: genotyping, MNS blood group system, mutation

Doi: 10.2450/BloodTransfus.807

Immunohematology

Publication Date: 2024-05-23

Abstract

Short Description

During a blood donor routine genotyping, we repeatedly had an indeterminate call (IC) for GYPB*S with the BioArray HEA v1.2 BeadChip kit. By sequencing DNA, the molecular presence of cytosine and thymine was found at the polymorphic site rs7683365 (c.143T/C), predictive of S(+) and s(+) antigens. Moreover, a heterozygous polymorphism c.137-8C/T was detected, which is located in the HEA probe binding region and is known to induce a failure in genotyping with the BeadChip^TM technology. No evidence was found for c.270+5G/T polymorphism, which is characteristic of P2 allele. Serological testing for S and s with Grifols sera and automatic system showed a weak expression of S and a normal expression of s antigens. To the best of our knowledge this is the first description of a case where this gene alteration is not associated with the presence of a P2 allele.

References

pdf

Details
Statistics

Authors

Luca Collodel Transfusion Medicine Department of District of Venice, “Dell’Angelo” General Hospital, Mestre Venice Italy

Gianluca Gessoni Transfusion Medicine Department of District of Venice, “Dell’Angelo” General Hospital, Mestre Venice Italy

Tommaso Mancuso Werfen, Milan, Italy

Abstract viewed - 887 times
pdf downloaded - 0 times

PLASTIC RECONSTRUCTIVE AND REGENERATIVE SURGERY

Abstract

References

Downloads

Authors