Deletion in the A4GALT Gene Associated with Rare "P null" Phenotype: The First Report from India.
Transfus Med Hemother
; 47(2): 186-189, 2020 Apr.
Article
en En
| MEDLINE
| ID: mdl-32355479
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Transfus Med Hemother
Año:
2020
Tipo del documento:
Article
País de afiliación:
India