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Severe hemolytic disease of the fetus and newborn due to allo‐anti‐D in a patient with a partial DEL phenotype arising from the variant allele described as RHD*148+1T (RHD*01EL.31)
Author(s) -
Turley Elona,
McGowan Eunike C.,
Hyland Catherine A.,
Schoeman Elizna M.,
Flower Robert L.,
Skoll Amanda,
Delisle MarieFrance,
Nelson Tanya,
Clarke Gwen,
Au Nicholas
Publication year - 2018
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.14944
Subject(s) - hemolytic disease of the newborn (abo) , phenotype , context (archaeology) , fetus , genotyping , allele , biology , medicine , immunology , pregnancy , genotype , genetics , gene , paleontology
BACKGROUND RhD DEL variants may show complete or partial expression of RhD epitopes. There have been only rare reports of anti‐D causing hemolytic disease of the fetus and newborn (HDFN) in this context. We report a case of severe HDFN associated with a recently described DEL variant. CASE REPORT A multiparous woman presented with an allo‐anti‐D and showed incongruent phenotyping and genotyping results on initial study. Further investigations identified the RHD mutation, defined as RHD*148+1T and named RHD*01EL.31 , which had been previously associated with a DEL phenotype. Extended RhD phenotyping by adsorption‐elution showed that there was reactivity with four of nine monoclonal anti‐D antibodies, suggesting a partial DEL phenotype. The first child showed no clinical evidence of HDFN, although the cord direct antiglobulin test was positive. The second child developed fetal anemia treated with intrauterine transfusion, and neonatal hyperbilirubinemia requiring exchange transfusion. CONCLUSION The RHD allele, RHD*148+1T , results in a partial Del phenotype, and the anti‐D formed in pregnant women with this phenotype is capable of causing severe HDFN.