[High-throughput genotyping multiplex ligation-dependent probe amplification for assisting diagnosis in a case of anti-Di(a)-induced severe hemolytic disease of the newborn]

Nan Fang Yi Ke Da Xue Xue Bao. 2012 Feb;32(2):234-8.
[Article in Chinese]

Abstract

Objective: To report a rare case of hemolytic disease of the newborn (HDN) with kernicterus caused by anti-Di(a) diagnosed using high-throughput genotyping multiplex ligation-dependent probe amplification (MLPA).

Methods: Conventional serological methods were used to detect the antibodies related with HDN. The genotypes of more than 40 red blood cell antigens for the newborn and her parents were obtained using the high-throughput MLPA assay. The antibody titers were tested using a standard serological method.

Results: The unknown antibody against the low-frequency antigens was predicted based on the primary serological tests. The genotyping results for more than 40 red blood cell antigens of the newborn and her parents showed incompatible antigens of MNS and Diego blood group system, indicating the existence of anti-N or anti-Di(a). Further serological tests confirmed anti-Di(a) existence in the plasma of the newborn and her mother. The titer of anti-Di(a) in the mother's plasma was 1:32.

Conclusion: Severe HDN including kernicterus can result from anti-Di(a). High-throughput genotyping MLPA assay can help type some rare antigens in complicated cases. The reagent red cell panels including Di(a)-positive cells are necessary in routine antibody screening test in Chinese population.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Group Incompatibility* / genetics
  • Erythroblastosis, Fetal / diagnosis*
  • Erythroblastosis, Fetal / immunology*
  • Exchange Transfusion, Whole Blood
  • Female
  • Genotype
  • Humans
  • Infant, Newborn
  • Nucleic Acid Amplification Techniques / methods*
  • Rh-Hr Blood-Group System / genetics*
  • Rh-Hr Blood-Group System / immunology
  • Rho(D) Immune Globulin / genetics
  • Rho(D) Immune Globulin / immunology

Substances

  • Rh-Hr Blood-Group System
  • Rho(D) Immune Globulin