Rh blood group
Learning Outcomes
Utilize the Rh blood group system as a primary example of protein-based blood grouping (BG) to review:
Inheritance (genetics/terminology)
Basic biochemistry (antigens and phenotyping)
Clinical significance (Antibodies and HDFN)
History of the Rh Blood Type
1939: Levine and Stetson identified severe hemolytic reactions in a mother during transfusion due to lack of a new antigen inherited from the fetus.
Maternal antibodies reacted with the transfused husband's compatible blood.
1940: Landsteiner and Wiener discovered the Rh antigen (D) after immunizing rabbits with rhesus monkey blood, finding human antibodies agglutinated RBCs.
Distinction was later made that human-derived antibodies and animal antibodies targeted different systems leading to the Rh designation.
Discovery of five major Rh antigens: D, C, E, c, and e indicating complex, multi-allelic systems.
Clarified two medical mysteries:
Hemolytic transfusion reactions in patients receiving ABO identical blood.
Erythroblastosis fetalis in newborns.
Rh Locus
RHD gene: D antigen - Highly immunogenic.
D+ individuals: Inherit 2 Rh genes (RHD + 1 RHCE allele from each parent).
D– individuals: Only possess RHCE genes as RHD is deleted.
Major Rh antigens include: D, C, c, E, and e.
Rh genes inherited as a haplotype; RHCE genes can produce antigens (ce, Ce, cE, or CE).
Antithetical Ags controlled by various RHCE genes (C/c and E/e).
Rh Inheritance
Inheritance involves two genes (RHD and RHCE), similar (94% identical) but oriented oppositely.
Gene combinations can produce 8 haplotypes based on presence/absence of RHD gene.
Notation explained:
d: RHD deletion (inactive)
R: Presence of RHD and D antigen
r: Absence of RHD antigen.
Haplotype Notation
Haplotype combinations include:
DCe, dce, DcE, dce
Each designation denotes specific alleles present.
R used for presence of D antigen, while subscripts denote other antigens.
Rh Antigens
Expressed as a protein complex in RBC membrane.
Complex thought to be a tetramer:
RhD (D antigen)
RhCE (C/c and E/e antigens)
In D– individuals, only the RhCE complex is present.
Rh-associated glycoprotein (RhAG) directs Rh antigens to the RBC membrane.
Clinical Significance of the Rh System
Rh antibodies: Usually IgG types formed post-exposure to foreign RBCs via transfusion or pregnancy.
Major clinical significances:
Transfusion: Rh antibodies can lead to severe transfusion reactions; D– individuals must avoid transfusion of D+ blood.
HDFN: Rh antibodies (especially anti-D) can cause hemolytic disease in newborns through fetomaternal hemorrhage (FMH).
Mechanism of HDFN
FMH: Occurs during pregnancy/delivery and exposes D– mother to D+ fetal blood.
Results in maternal production of anti-D antibodies, creating risks in subsequent D+ pregnancies, potentially causing increased severity of HDFN.
Symptoms & Consequences
Symptoms of severe anemia: Increased fetal RBC destruction leads to elevated unconjugated bilirubin in newborns, which can cause neurological damage (kernicterus) and cardiovascular failure.
Maternal liver may struggle to manage bilirubin.
Summary of RhD Importance
Transfusion of D+ blood into D– individuals can result in:
Production of anti-D antibodies leading to hemolytic transfusion reactions.
Patients must be carefully typed to avoid this.
The presence of distinct antibody types (IgG vs. IgM) plays a crucial role in both transfusion practices and understanding of HDFN pathology.