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.
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 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-α-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.
El uso prenatal de altas dosis de gammaglobulina endovenosa en la enfermedad hemolítica del feto y el recién nacido está indicado en situaciones donde se registran antecedentes obstétricos de jerarquía con compromiso fetal predecible y en edad gestacional precoz para realizar transfusión intrauterina. Se presenta el caso de una paciente de 28 años con antecedentes de 3 muertes fetales por enfermedad hemolítica Rh(D), la última en edad gestacional muy temprana, que alcanzó un recién nacido vivo con altas dosis de gammaglobulina endovenosa a partir de la 13ª semana. El trabajo interdisciplinario de los servicios tratantes garantizó el estricto control, seguimiento y exitoso tratamientoThe prenatal use of high dose intravenous immunoglobulin (IVIG) is indicated in cases of severe haemolytic disease of the fetus and newborn when low gestational age makes intrauterine transfusions technically difficult. We describe our experience with a patient with history of three fetal deaths from Rh (D) hemolytic disease, the last one at very low gestational age, who achieved an alive newborn after early treatment with IVIG from 13 weeks gestation. The interdisciplinary work guaranteed the strict control, follow-up and successful treatment