Abstract

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.

Original languageEnglish
JournalTransfusion Medicine and Hemotherapy
DOIs
Publication statusAccepted/In press - 01-01-2019

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India
Phenotype
Chromosome Deletion
Genes
Tertiary Care Centers
Anti-Idiotypic Antibodies
Exome
Molecular Pathology
Antibodies
Traffic Accidents
Blood Group Antigens
Blood Transfusion
Registries
Hospitalization
Emergencies
Tissue Donors
Antigens
Amino Acids
DNA
Wounds and Injuries

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Hematology

Cite this

@article{dc4a26673bd54c279e062bb7794d1c5b,
title = "Deletion in the A4GALT Gene Associated with Rare {"}p null{"} Phenotype: The First Report from India",
abstract = "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.",
author = "Shamee Shastry and Kapaettu Satyamoorthy and Acharya, {Kiran V.} and Reddy, {Vijay Ram} and Ganesh Mohan and Chenna Deepika and Dinesh Reghunathan and Joshi, {Manjunath B.}",
year = "2019",
month = "1",
day = "1",
doi = "10.1159/000501916",
language = "English",
journal = "Transfusion Medicine and Hemotherapy",
issn = "1660-3796",
publisher = "S. Karger AG",

}

Deletion in the A4GALT Gene Associated with Rare "p null" Phenotype : The First Report from India. / Shastry, Shamee; Satyamoorthy, Kapaettu; Acharya, Kiran V.; Reddy, Vijay Ram; Mohan, Ganesh; Deepika, Chenna; Reghunathan, Dinesh; Joshi, Manjunath B.

In: Transfusion Medicine and Hemotherapy, 01.01.2019.

Research output: Contribution to journalArticle

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 - 2019/1/1

Y1 - 2019/1/1

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.

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