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what are blood group systems?
group of antigens on the RBC membrane that share related serologic properties and genetic patterns of inheritance
what is a phenotype?
physical (observed) expression of traits
what is a punnett square used for?
used to predict the probability of an offspring’s genotype
summarizes every possible combination of maternal and paternal alleles of a particular gene
what is codominant?
equal expression of two different alleles → most blood group antigens are codominant
what is amorphic?
genes that do not express a detectable product due to loss of function
when does linkage occur?
when 2 genes that are close to each other are inherited together
what is a haplotype?
each set of linked genes
where are most blood group system genes located?
on autosomes
where are Xg genes (sex linked) found?
on the X chromosome
what happens if the father carries the Xg allele?
he will pass it to all of his daughters
what happens if the mother carries the Xg allele?
all of their children will express Xg
what is a person called if a person inherits identical alleles?
homozygous
AA, BB, MM (M+ N-)
what is a person called if a person inherits different alleles?
heterozygous
what is dosage?
a variation in antigen expression due to number of alleles present
what is “double dose”?
in some blood group systems, a person homozygous for an allele will have a double dose of an antigen on their RBCs compared with a person who is heterozygous for an allele
what can affect the expression of the antigen?
location of inherited genes in cis or trans positions
what is a cis position?
alleles on the same chromosome
what is a trans position?
alleles on opposite chromosomes
what is the definition of population genetics?
studies of the frequency of genetic variation in different human populations and the use of genetic variants for characterizing genetic differences among humans
what does a phenotype calculation enable?
enables finding a unit of RBCs with certain antigen characteristics
what is the hardy-weinberg formula calculate?
calculates a determination of the gene frequencies that produced a trait
how would you calculate a phenotype if a patient with multiple antibodies needs blood?
convert all percentages into decimals then multiply
how would you calculate a phenotype if a patient with multiple antibodies needs X amounts of units?
convert all percentages into decimals then multiply then divide # of units needed by antigen negative frequency
what does p and q represent in the hardy-weinberg formula?
p represents allele 1
q represents allele 2
how is gene frequency represented in the hardy-weinberg formula?
p + q = 1
what are the genotype proportions in the hardy-weinberg formula?
(p + q)2 = 1.0 or p2 + 2pq + q2 = 1.0
what does the landsteiner’s rule state?
that healthy individuals possess ABO antibodies to the ABO blood group antigens absent from their RBCs
who coined the term horror autotoxicus?
german immunologist and nobel laureate, paul ehrlich in 1845 - 1915
when are ABO antigens detected?
in the embryo as early as 5 to 6 weeks gestation
what is a null cell?
O cells lacking both A and B antigens → will have many H antigen sites
what blood group is the universal recipient?
AB patients
what blood group is the universal donor?
O patients
what does the H gene control?
the presence or absence of the ABH antigens on the RBC membrane
what does the Se gene influence?
the presence of absence of the ABH antigens in secretions
what is the oligosaccharide chain?
basic precursor structure for several RBC antigens, including A, B, and H
what antigen is the foundation for the A and/or B antigens?
H antigen
what does the H gene code for?
codes for a glucosyltransferase enzyme that transfers the immunodominant sugar, L-fucose
what does the A gene code for?
codes for a transferase that adds the immunodominant sugar, N-acetylgalactosamine
what does the B gene code for?
codes for a transferase that adds the immunodominant sugar, D-galactose
what percentage of A or AB individuals are A1?
80%
what percentage are A2 and A2B?
20%
why is it important to identify subgroups?
to avoid transfusing ABO incompatible blood, avoiding a transfusion reaction, and a BAD patient outcome
what are ABO antibodies?
non-RBC stimulated and may not be detected until 3 to 6 months of age
what are the antibodies in blood group O?
anti-A
anti-B
anti-A,B
antibody class is mostly IgG
what is the Anti-A1 antibody?
produced by subgroups of the ABO group A type rather than A1 when exposed to A1 cells… has specificity to the A1 antigen but will not agglutinate A2 cells & may cause incompatible crossmatches on IS testing
what is forward grouping?
RBCs are tested for ABO antigens
what is reverse grouping?
serum or plasma is tested for ABO antibodies
if a patient is group A, what types can be given to them in whole blood, RBCs, and plasma?
whole blood
A
RBCs
A, O
plasma
A, AB
if a patient is group B, what types can be given to them in whole blood, RBCs, and plasma?
whole blood
B
RBCs
B, O
plasma
B, AB
if a patient is group AB, what types can be given to them in whole blood, RBCs, and plasma?
whole blood
AB
RBCs
AB, A, B, O
plasma
AB
if a patient is group O, what types can be given to them in whole blood, RBCs, and plasma?
whole blood
O
RBCs
O
plasma
O, A, B, AB
when do ABO discrepancies occur?
when the forward grouping does not agree with the reverse grouping
what are the causes for extra agglutination?
anti-A1
cold alloantibodies
antibodies specific for human RBC antigens that react at room temp or below
cold autoantibodies
antibodies specific for autologous antigens that react at room temperature or below
rouleaux
false-positive agglutination, saline replacement of serum best resolution for rouleaux
what is the bombay phenotype?
RBCs lack the H antigen (hh) & first reported in 1952 in bombay, india
what can only be used for those who have the bombay phenotype?
only autologous units or rare donor units can be used
who linked the Rh system to HDFN?
levine and stetson in 1940
what did landsteiner and wiener find regarding anti-Rh?
15% of RBCs did not agglutinate and are thus Rh negative
when stimulated by Rhesus monkey RBCs, what was found regarding human anti-Rh?
found that human anti-Rh was similar to guinea pig and rabbit antibodies produced when stimulated with Rhesus monkey RBCs
what is the order of the genes? how are they sometimes ordered?
order of genes is usually DCE but they are sometimes ordered alphabetically as CDE
what antigen is the most immunogenic in the Rh system?
D antigen
what is a genotype?
the genetic makeup and can be predicted by using the phenotype and by considering the race of an individual
what is phenotype the result of?
the result of the reaction between the RBCs and the antisera
what blood should D-negative individuals receive?
should receive D-negative blood
if they receive D-positive blood, it may produce an anti-D in response
what happens if a person is exposed to the D antigen a single time?
may result in the formation of anti-D
what is D antigen composed of?
composed of several component antigens (mosaic)
what is weak D antigen?
RBCs that test positive only by the indirect antiglobulin test (IAT) at AHG → IAT is usually required to detect the weak antigen
when may the D antigen appear weak?
when the C antigen is inherited trans to D
what blood should patients who are weak D positive not receive?
cannot receive D positive blood
what are Rh antibodies?
usually RBC stimulated from transfusion or pregnancy and most are immunoglobulin G (IgG1)… does not activate complement
what are useful for identifying Rh antibody?
potentiators
what antibodies react stronger to homozygous antigens (dosage)?
antibodies to C, c, E, and e