First report of a KELnull phenotype in Peru and a lesson of invisible genetic disparity.
Transfus Apher Sci
; 58(4): 453-456, 2019 Aug.
Article
em En
| MEDLINE
| ID: mdl-31176642
Blood banks in developing countries have limited capability to typify common blood groups creating disparities in the access to blood units for patients with rare blood genotypes. We report the case of a Peruvian woman with metastatic breast cancer with KELnull phenotype (K0), a rare blood group characterized by the lack of expression of all Kell antigens on the red blood cells (RBCs). The molecular studies identified that the patient's RBCs were homozygous for the nonsense c.1546C > T mutation predicted to encode p.Arg516Ter (KEL*02 N.17 allele), which confirmed the K0 phenotype. We conducted a local and international search of compatible blood units. Finally, the Japanese Red Cross donated the blood units for the patient. We present here the first report for a K0 phenotype in Peru and the challenging genetic disparities that many patients have to face to access to blood units in our country.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glicoproteínas de Membrana
/
Metaloendopeptidases
/
Substituição de Aminoácidos
/
Mutação de Sentido Incorreto
/
Sistema do Grupo Sanguíneo de Kell
Tipo de estudo:
Prognostic_studies
Aspecto:
Equity_inequality
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
America do sul
/
Peru
Idioma:
En
Revista:
Transfus Apher Sci
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2019
Tipo de documento:
Article
País de publicação:
Reino Unido