title: [A rare blood group: p phenotype].
abstract: A rare blood group is usually defined as the absence of a high prevalence antigen or the absence of several antigens within a single blood group system. These individuals may develop clinically significant red cell antibodies to the high incidence red cell antigens they lack. A 33-year-old alloimmunized woman was referred to our center at the 12th week of her third pregnancy for evaluation and follow up. The laboratory work-up grouped her as belonging to "p" phenotype, associated with difficulties to find compatible blood for transfusion and a high incidence of recurrent miscarriage. At 36 weeks, a baby girl was born by induced labor due to fetal suffering. With a negative direct antiglobulin test but a positive elution test, she was in the neonatology ward for one week receiving luminotherapy. Homozygosity for a missense mutation at position 752 (c.752C > T) in the A4GALT gene was found to be responsible for the p phenotype. This mutation changes a proline to a leucine at codon 251 of the 4-?-galactosyltransferase. Recently, due to an imminent chirurgical intervention and the impossibility to have compatible blood available for transfusion, an autologous donation plan was designed to satisfy probable demand. This case showed the need for blood bank facilities capable to respond satisfactorily to these situations in Argentina. This would facilitate the storage of cryopreserved blood from individuals with rare blood groups for homologous use or to develop rare blood donors programs.
authors.affiliation: Servicio de Hematología y Medicina Transfusional, Hospital Italiano Garibaldi, Rosario, Santa Fe, Argentina. daniel.delavega@yahoo.com
authors.forename: Carlos D
authors.initials: CD
authors.lastname: De La Vega Elena
authors.forename: Asa
authors.initials: A
authors.lastname: Hellberg
authors.forename: Sofía
authors.initials: S
authors.lastname: Bonetti
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Gonzalez
authors.forename: Sergio
authors.initials: S
authors.lastname: Chialina
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Raillon
authors.forename: Mario A
authors.initials: MA
authors.lastname: Pivetta
authors.forename: Edita A
authors.initials: EA
authors.lastname: Solis
authors.forename: Martin L
authors.initials: ML
authors.lastname: Olsson
mesh_terms: D000328:Adult; D001483:Base Sequence; D001803:Blood Transfusion; D004899:Erythroblastosis, Fetal / Q000097:blood*; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D016695:Glycosyltransferases / Q000032:analysis; D006801:Humans; D020125:Mutation, Missense; D010127:P Blood-Group System / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy
chemical_list: D010127:P Blood-Group System; D016695:Glycosyltransferases; D005700:Galactosyltransferases