TY - JOUR
T1 - Deletion in the A4GALT Gene Associated with Rare "p null" Phenotype
T2 - The First Report from India
AU - Shastry, Shamee
AU - Satyamoorthy, Kapaettu
AU - Acharya, Kiran V.
AU - Reddy, Vijay Ram
AU - Mohan, Ganesh
AU - Deepika, Chenna
AU - Reghunathan, Dinesh
AU - Joshi, Manjunath B.
PY - 2020/1/1
Y1 - 2020/1/1
N2 - Background: The present report illustrates a case with rare "P null" phenotype due to a large deletion in chromosome 22q13.2 and with clinically significant anti-PP1Pk antibody. Patient blood management in such cases is challenging. Case Report: The transfusion center supporting the tertiary care referral center in the southern part of India received a blood sample from a trauma case for pre-transfusion testing. An antibody to a high-frequency blood group antigen was initially suspected. Following extensive immune-hematological workup, the patient was diagnosed to have naturally occurring anti-PP1Pk antibody and a rare "P null" phenotype. The genomic DNA of the patient was analyzed by exome sequencing followed by Sanger's sequencing. Molecular diagnostics revealed a large 21-bp deletion in chromosome 22q13.2 which encodes the A4GALT gene, resulting in truncation of seven amino acids I245-251P and resulted in rare "P null" phenotype. Patient blood management strategies were adopted to manage the patient conservatively without blood transfusion. Conclusion: A large deletion in chromosome 22q13.2 had resulted in a rare "P null" phenotype in the present case. The patient was a victim of a road traffic accident, required emergency hospitalization, as well as surgical intervention, and his plasma had antibodies to high-frequency antigens. A rare donor registry plays a major role in providing transfusion support to such cases.
AB - Background: The present report illustrates a case with rare "P null" phenotype due to a large deletion in chromosome 22q13.2 and with clinically significant anti-PP1Pk antibody. Patient blood management in such cases is challenging. Case Report: The transfusion center supporting the tertiary care referral center in the southern part of India received a blood sample from a trauma case for pre-transfusion testing. An antibody to a high-frequency blood group antigen was initially suspected. Following extensive immune-hematological workup, the patient was diagnosed to have naturally occurring anti-PP1Pk antibody and a rare "P null" phenotype. The genomic DNA of the patient was analyzed by exome sequencing followed by Sanger's sequencing. Molecular diagnostics revealed a large 21-bp deletion in chromosome 22q13.2 which encodes the A4GALT gene, resulting in truncation of seven amino acids I245-251P and resulted in rare "P null" phenotype. Patient blood management strategies were adopted to manage the patient conservatively without blood transfusion. Conclusion: A large deletion in chromosome 22q13.2 had resulted in a rare "P null" phenotype in the present case. The patient was a victim of a road traffic accident, required emergency hospitalization, as well as surgical intervention, and his plasma had antibodies to high-frequency antigens. A rare donor registry plays a major role in providing transfusion support to such cases.
UR - http://www.scopus.com/inward/record.url?scp=85074936051&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85074936051&partnerID=8YFLogxK
U2 - 10.1159/000501916
DO - 10.1159/000501916
M3 - Article
AN - SCOPUS:85074936051
SN - 1660-3796
JO - Transfusion Medicine and Hemotherapy
JF - Transfusion Medicine and Hemotherapy
ER -