Publications by authors named "Helen Mah"

Background: The Er blood group system was recently shown to be defined by PIEZO1. The system consists of high prevalence antigens Er, Er3, ERSA, and ERAMA; and low prevalence antigen Er. Er/Er are antithetical with Er(a-b+) defined by the ER*B allele [c.

View Article and Find Full Text PDF

ABO compatibility is important for kidney transplantation, with longer waitlist times for blood group B kidney transplant candidates. However, kidneys from non-A (eg, A) subtype donors, which express less A antigen, can be safely transplanted into group B recipients. ABO subtyping is routinely performed using anti-A lectin, but DNA-based genotyping is also possible.

View Article and Find Full Text PDF

Emm is a high incidence red cell antigen with eight previously reported Emm- probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic epitope and genetic basis have been elusive.

View Article and Find Full Text PDF

Background And Objectives: Rh is one of the most diverse and complex blood group systems. Recently, next generation sequencing (NGS) has proven to be a viable option for RH genotyping. We have developed automated software (bloodTyper) for determining alleles encoding RBC antigens from NGS-based whole genome sequencing (WGS).

View Article and Find Full Text PDF

Background: The MNS blood group system is defined by three homologous genes: GYPA, GYPB, and GYPE. GYPB encodes for glycophorin B (GPB) carrying S/s and the "universal" antigen U. RBCs of approximately 1% of individuals of African ancestry are U- due to absence of GPB.

View Article and Find Full Text PDF

Background: Genotyping has expanded the number red blood cell (RBC) and platelet (PLT) antigens that can readily be typed, but often represents an additional testing cost. The analysis of existing genomic data offers a cost-effective approach. We recently developed automated software (bloodTyper) for determination of RBC and PLT antigens from whole genome sequencing.

View Article and Find Full Text PDF

Background: Although P1 and Xg are known to be associated with the A4GALT and XG genes, respectively, the genetic basis of antigen expression has been elusive. Recent reports link both P1 and Xg expression with nucleotide changes in the promotor regions and with antigen-negative phenotypes due to disruption of transcription factor binding.

Study Design And Methods: Whole genome sequencing was performed on 113 individuals as part of the MedSeq Project with serologic RBC antigen typing for P1 (n = 77) and Xg (n = 15).

View Article and Find Full Text PDF

Background: There are more than 300 known red blood cell (RBC) antigens and 33 platelet antigens that differ between individuals. Sensitisation to antigens is a serious complication that can occur in prenatal medicine and after blood transfusion, particularly for patients who require multiple transfusions. Although pre-transfusion compatibility testing largely relies on serological methods, reagents are not available for many antigens.

View Article and Find Full Text PDF

Background: More than 30% of potential kidney transplant recipients have pre-existing anti-human leukocyte antigen antibodies. This subgroup has significantly lower transplant rates and increased mortality. Desensitization has become an important tool to overcome this immunological barrier.

View Article and Find Full Text PDF

Sensitization to HLA is a risk factor for adverse outcomes after heart transplantation. Requiring a negative prospective CM results in longer waiting times and increased waitlist mortality. We report outcomes in a cohort of sensitized children who underwent transplant despite a positive CDC CM+ using a protocol of antibody depletion at time of transplant, followed by serial IVIG administration.

View Article and Find Full Text PDF

Background: Renal tumors are common in the pretransplant end-stage renal disease population. Their impact on transplant outcome has not been well addressed.

Methods: This study is a retrospective follow-up observational study conducted in 258 renal transplant recipients.

View Article and Find Full Text PDF

Background: Sensitization to human leukocyte antigens remains an important barrier to successful renal transplantation.

Materials And Methods: Herein we describe our center's experience with a plasmapheresis-based desensitization protocol for highly sensitized patients. Twenty-nine patients had a positive T-cell or positive B-cell lymphocytotoxicity crossmatch against their donors.

View Article and Find Full Text PDF

Kidney transplantation from live donors achieves an excellent outcome regardless of human leukocyte antigen (HLA) mismatch. This development has expanded the opportunity of kidney transplantation from unrelated live donors. Nevertheless, the hazard of hyperacute rejection has usually precluded the transplantation of a kidney from a live donor to a potential recipient who is incompatible by ABO blood type or HLA antibody crossmatch reactivity.

View Article and Find Full Text PDF