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Blood group deletion syndrome — Clinical Guidelines

Overview

Blood group deletion syndrome refers to rare genetic conditions where specific blood group antigens are absent due to deletions or mutations in the corresponding genes, leading to unique serological phenotypes and potential transfusion complications 1 6.

Diagnosis

Molecular Typing: Essential for accurate diagnosis, especially in resolving discrepancies from serological testing 1 6.

Serological Testing: Initial screening using conventional methods, but often insufficient for definitive diagnosis 1.

Flow Cytometry: Useful for assessing weak or variant antigens 5.

Genotyping: Recommended for confirming specific deletions or mutations 4 6.

Management

Compatible Transfusion: Ensure blood products are matched using molecular typing to avoid transfusion reactions 1.

Pre-transfusion Testing: Rigorous crossmatching and molecular testing to prevent adverse events 1 6.

Patient Education: Inform patients about their unique blood group status and potential implications for future transfusions 1.

Special Populations

Pregnancy: Requires meticulous blood group compatibility assessment between mother and fetus to prevent hemolytic disease 1.

Pediatrics: Early molecular diagnosis crucial for managing rare blood group phenotypes in pediatric transfusion cases 4.

Key Recommendations

Utilize molecular methods for precise blood group typing to prevent transfusion errors 1 6 (Evidence: Strong).

Implement rigorous serological and molecular testing protocols in cases of suspected blood group deletions 1 5 (Evidence: Moderate).

Educate healthcare providers and patients about the clinical implications of blood group deletion syndromes 1 (Evidence: Expert opinion).

References

1 Shastry S, Chopra A, Liew YW, Millard G, Chenna D, Mohan G et al.. Precision diagnostics in Transfusion Medicine: Advancing accuracy in Bombay blood group typing through molecular methods. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2025. link 2 Zhu Z, Ye L, Li Q, Gao H, Tan Y, Cai W. Red Cell Immunohematology Research Conducted in China. Transfusion medicine reviews 2017. link 3 Bachegowda LS, Cheng YH, Long T, Shaz BH. Impact of Uniform Methods on Interlaboratory Antibody Titration Variability: Antibody Titration and Uniform Methods. Archives of pathology & laboratory medicine 2017. link 4 Edinur HA, Dunn PP, Lea RA, Chambers GK. Molecular approaches to transfusion medicine in Polynesians and Maori in New Zealand. International journal of immunogenetics 2013. link 5 Thuresson B, Hosseini-Maaf B, Hult AK, Hustinx H, Alan Chester M, Olsson ML. A novel B(weak) hybrid allele lacks three enhancer repeats but generates normal ABO transcript levels. Vox sanguinis 2012. link 6 Reid ME, Denomme GA. DNA-based methods in the immunohematology reference laboratory. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2011. link 7 Denomme GA, Westhoff CM, Castilho L, Reid ME. Consortium for Blood Group Genes (CBGG): 2008 report. Immunohematology 2009. link 8 Hughes-Jones N, Tippett P. Ruth Ann Sanger. Biographical memoirs of fellows of the Royal Society. Royal Society (Great Britain) 2003. link 9 Lloyd KO. The chemistry and immunochemistry of blood group A, B, H, and Lewis antigens: past, present and future. Glycoconjugate journal 2000. link 10 Petty AC, Tippett P. Investigation of the biochemical relationship between the blood group antigens Xga and CD99 (12E7 antigen) on red cells. Vox sanguinis 1995. link 11 Kushi Y, Tsunoda A, Komatsuzaki A, Watanabe K, Kasama T, Handa S. Characterization of blood-group-ABO(H)-active glycosphingolipids in type-AB human erythrocytes. European journal of biochemistry 1995. link 12 Banks JA, Hemming N, Poole J. Evidence that the Gya, Hy and Joa antigens belong to the Dombrock blood group system. Vox sanguinis 1995. link 13 Duk M, Mitra D, Lisowska E, Kabat EA, Sharon N, Lis H. Immunochemical studies on the combining site of the A + N blood type specific Moluccella laevis lectin. Carbohydrate research 1992. link85019-v) 14 Dahr W. Miltenberger subsystem of the MNSs blood group system. Review and outlook. Vox sanguinis 1992. link 15 Spring FA. Immunochemical characterisation of the low-incidence antigen, Dha. Vox sanguinis 1991. link 16 Dahr W, Blanchard D, Kiedrowski S, Poschmann A, Cartron JP, Moulds JJ. High-frequency antigens of human erythrocyte membrane sialoglycoproteins. VI. Monoclonal antibodies reacting with the N-terminal domain of glycophorin C. Biological chemistry Hoppe-Seyler 1989. link 17 Le Van Kim C, Colin Y, Blanchard D, Dahr W, London J, Cartron JP. Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types. Immunochemical study and genomic analysis with cDNA probes. European journal of biochemistry 1987. link 18 Hanfland P, Kordowicz M, Peter-Katalinic J, Pfannschmidt G, Crawford RJ, Graham HA et al.. Immunochemistry of the Lewis blood-group system: isolation and structures of Lewis-c active and related glycosphingolipids from the plasma of blood-group O Le(a-b-) nonsecretors. Archives of biochemistry and biophysics 1986. link90322-x) 19 Yazawa S, Furukawa K. Immunochemical properties of human plasma alpha 1 leads to 2 fucosyltransferase specified by blood group H-gene. Journal of immunogenetics 1983. link 20 Furthmayr H. Structural comparison of glycophorins and immunochemical analysis of genetic variants. Nature 1978. link 21 Myhre B, Thompson M, Anson C, Fishkin B, Carter PK. A further example of the recessive Lu(a-b-) phenotype. Vox sanguinis 1975. link 22 Feizi T, Kabat EA. Immunochemical studies on blood groups. LIV. Classification of anti-I and anti-i sera into groups based on reactivity patterns with various antigens related to the blood group A,B,H, Le a, Le b and precursor substances. The Journal of experimental medicine 1972. link 23 Feizi T, Kabat EA, Vicari G, Anderson B, Marsh WL. Immunochemical studies on blood groups. XLVII. The I antigen complex--precursors in the A, B, H, Lea, and leb blood group system--hemagglutination-inhibition studies. The Journal of experimental medicine 1971. link 24 Bellchambers LA, Rinsler MG, Signy AG. Computer-assisted method for compiling a blood group register. Journal of clinical pathology 1969. link 25 Moreno C, Kabat EA. Studies on human antibodies. 8. Properties and association constants of human antibodies to blood group A substance purified with insoluble specific adsorbents and fractionally fluted with mono- and oligosaccharide. The Journal of experimental medicine 1969. link 26 Jirgensons B, Springer GF. Conformation of blood-group and virus receptor glycoproteins from red cells and secretions. Science (New York, N.Y.) 1968. link

Blood group deletion syndrome