Deletion in the A4GALT Gene Associated with Rare “P null” Phenotype: The First Report from India

Shastry, Shamee and Satyamoorthy, K and Acharya, Kiran KV and Reddy, Vijay Ram and Mohan, Ganesh and Chenna, Deepika and Reghunathan, Dinesh and Joshi, Manjunath B (2020) Deletion in the A4GALT Gene Associated with Rare “P null” Phenotype: The First Report from India. Transfusion Medicine and Hemotherapy, 47 (2). pp. 186-189. ISSN 1660-3796

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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

Item Type: Article
Uncontrolled Keywords: Null phenotype; A4GALT gene; Large deletion; Rare blood group; Anti-PP1Pk; Blood transfusion; Patient blood management
Subjects: Medicine > KMC Manipal > Immunohematology and Blood Transfusion
Life Sciences > MLSC Manipal
Medicine > KMC Manipal > Orthopaedics
Depositing User: KMC Library
Date Deposited: 27 Jun 2021 06:03
Last Modified: 27 Jun 2021 06:03

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