(P) Other Blood Groups [AI GENERATED] Flashcards

1
Q

What is a chromosome?

A

The structure within the nucleus that contains a linear thread of DNA which transmits genetic information.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Define gene.

A

A unit of inheritance within a chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are alleles?

A

One of two or more different genes that may occupy a specific locus on a chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What does dominant mean in genetics?

A

A trait or character that will be expressed in the offspring.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is codominance?

A

A pair of genes that are both dominant and both expressed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Define amorphic gene.

A

A silent gene; a gene that does not produce a detectable antigen (e.g., Type O gene).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is a null phenotype?

A

When paired chromosomes carry the same silent allele.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are autosomes?

A

Any chromosome other than the sex chromosomes (X & Y); 22 autosomes and 1 sex chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Define heterozygous.

A

Possessing different alleles at a given gene locus.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Define homozygous.

A

Possessing a pair of identical alleles.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the role of the International Society of Blood Transfusion (ISBT) Working Party?

A

Maintains an official record of all currently recognised blood group systems.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How many blood group systems are recognized as of June 2021?

A

43 recognized blood group systems containing 345 red cell antigens.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is a blood group system (BGS)?

A

One or more antigens produced by alleles at a single gene locus or loci.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the significance of genetic variation in blood group systems?

A

The underlying genetic variation must be identified, sequenced, and confirmed to affect phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What does serologic definition of an antigen entail?

A

Testing with the corresponding antigen through serologic testing, like phenotyping or blood typing.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are high prevalence antigens?

A

Antigens that have more than 99% prevalence or frequency in the general population.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are low prevalence antigens?

A

Antigens that occur less than one percent (1%) of the population.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Fill in the blank: Genes are written in _______ when handwritten.

A

[italics or underlined].

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What does IgM indicate in terms of antibodies?

A

Commonly does not bind complement and is often found in anti-M and anti-N antibodies.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the phenotype of an individual?

A

Refers to the antigens present on an individual’s RBCs and indicates the results of serologic tests on those RBCs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the frequency of the M+N- phenotype in Whites?

A

28%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the frequency of the S-s+ phenotype in Blacks?

A

69%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

True or False: The P blood group system’s biological role is well understood.

A

False; biological role is still unknown.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the significance of GPA and GPB in the P blood group system?

A

They serve as receptors for Plasmodium falciparum.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What does the term ‘alloantibodies’ refer to?

A

Antibodies that develop when exposed to a non-self or foreign antigen.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What characterizes the MNS blood group system?

A

It consists of more than 46 antigens, with M/N and S/s being commonly encountered in clinical settings.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What are the common antigens in the MNS blood group system?

A

M, N, S, and s.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What does dosage in antibodies refer to?

A

Stronger reaction if expressed as homozygous.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the phenotype for U (Universal antigen)?

A

High-incidence, resistant to enzyme treatment.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Define anti-M.

A

Commonly IgM, does not bind complement, and does not react with enzyme-treated RBCs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

True or False: The anti-N antibody is more common in adults than in children.

A

False; it is more common in children.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the frequency of the M-N- phenotype in Whites?

A

22%.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the significance of the ‘U’ antigen?

A

It is a universal antigen found in GPB.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What are the plant extracts used as antisera for M&N blood group antigens?

A

Anti-M: Iberis Amara, Anti-N: Vicia graminea

Both are plant-based lectins used in blood typing.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the common precursor of the P blood group antigens?

A

Lactosylceramide (Gb2)

Also known as ceramide dihexose.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the P blood group antigens resistant to?

A

Ficin, papain, DTT, chloroquine, glycine-acid EDTA

These treatments do not affect the P blood group antigens.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the gene that codes for the P1 PK antigen?

A

P1 PK Gene at Chromosome 22

The Globoside Gene is located at Chromosome 3.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Fill in the blank: The P blood group antigens are _______ in nature.

A

Glycosphingolipids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is the significance of the P1 antigen expression on RBCs?

A

Uniquely expressed on RBCs and poorly expressed at birth

Takes about 7 years to become fully expressed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is the clinical significance of anti-P1 antibodies?

A

Rarely significant; may cause in vivo RBC destruction if reactive at 37°C

Associated with immediate and delayed hemolytic transfusion reactions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What are the disease associations of the P1 antigen?

A

Hydatid cyst disease, fascioliasis, and infections from bird droppings

Titers are often elevated in these conditions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is the Donath-Landsteiner test used for?

A

To detect biphasic hemolysins in patients with paroxysmal cold hemoglobinuria

Involves incubating patient serum with P-positive RBCs at different temperatures.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are the common antigens found in the P blood group system?

A

P, P1, Pk

Pk and P antigens are high-frequency antigens on donor RBCs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Fill in the blank: The enzyme that codes for the P antigen is _______.

A

A4GALT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What type of antibodies are associated with the P blood group system?

A

IgM and IgG

Anti-P antibodies can cause hemolysis and are significant in transfusion reactions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

What is the association of the Pk antigen with infectious diseases?

A

Receptor for microbial pathogens including E. coli and Shiga toxins

Pk individuals lack P antigen, providing resistance to certain infections.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

What is the frequency of the PX2 antigen in the population?

A

> 99.9%

Expressed on cord cells and enhanced by enzyme treatment.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What are null or weak phenotypes in the P blood group system?

A

Three autosomal recessive null phenotypes and weak variants

Associated with the Pk variant and LKE-negative phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What does the Lutheran blood group system belong to?

A

Protein superfamily

Located on Chromosome 19 and contains 20 antigens.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What is the expression pattern of Lutheran glycoprotein?

A

Appears at the Orthochromatic Erythroblast Stage

Concurrent with binding of red cells to laminin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the significance of anti-PP1Pk antibodies?

A

Associated with hemolytic transfusion reactions and habitual early abortions

Can cause hemolytic disease of the fetus and newborn (HDFN).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the copy range for Luᵇ?

A

1640 - 4070 copies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What are the two forms of Lutheran glycoprotein?

A
  • Longer Lu Glycoprotein
  • Shorter Basal Cell Adhesion Molecule (B-CAM)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What is the frequency of Homozygous B (Lu (a⁻b⁺)) in Whites and Blacks?

A

92.35%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What is the frequency of Heterozygous (Lu (a⁺b⁺)) phenotype?

A

7.5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What is the frequency of Homozygous A (Lu (a⁺b⁻)) phenotype?

A

0.15%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is the frequency of Null (Lu (a⁻b⁻)) phenotype?

A

Very Rare

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is the molecular weight of the Longer Lu Glycoprotein?

A

85-kD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

How many amino acids does the Longer Lu Glycoprotein contain?

A

597 amino acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What is the size of the cytoplasmic domain of the Longer Lu Glycoprotein?

A

59 amino acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

True or False: The Lutheran glycoprotein is destroyed by treatment with trypsin.

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What type of protein is the Lutheran glycoprotein classified as?

A

Type q transmembrane protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

What type of antibodies are Anti-Lua and Anti-Lub primarily?

A

Usually IgG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Fill in the blank: Anti-Lu3 appears as inseparable ______.

A

Anti-Luᵃᵇ

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What is the inheritance pattern of Lu(a⁻b⁻) phenotype?

A
  • Autosomal recessive
  • Autosomal dominant (In[Lu])
  • X-linked recessive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

What is the biological role of the Lutheran glycoprotein?

A

High-affinity receptor for laminin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What chromosome is the Kell gene located on?

A

Chromosome 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What is the incidence of the Kell antigen K?

A

10%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the frequency of the Cellano (k) antigen?

A

99.8%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What is the characteristic of the McLeod phenotype?

A

Significantly depressed or absent Kell antigens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What is the genetic basis of the Ko phenotype?

A

Autosomal recessive, null phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Which antibodies are clinically significant in the Kell blood group?

A
  • Anti-K
  • Anti-Kpᵃ
  • Anti-Kpᵇ
  • Anti-Jsᵃ
  • Anti-Jsᵇ
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

What is the frequency of K+k- phenotype in Whites?

A

0.2%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

True or False: Anti-K is the most common antibody seen in the blood bank after ABO and Rh antibodies.

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What are the two Lewis antigens?

A
  • Lewis a (Lea)
  • Lewis b (Leb)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What chromosome is the Le gene located on?

A

Chromosome 19

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What phenotype is primarily associated with non-secretors of Lewis antigens?

A

Le (a+b-)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What is the influence of the Se gene on Lewis antigen expression?

A

It is required to express the Leb antigen.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

What type of cells manufacture Lewis antigens?

A

Tissue cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

What is the role of the Kell blood group in physiology?

A

Minor role in endothelin-3 homeostasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

What is the phenotype for secretors in the Lewis blood group system?

A

Le (a-b+)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

What are the three Lewis phenotypes observed in adults?

A
  • Le (a+b-): Non-Secretor
  • Le (a-b+): Secretor
  • Le (a-b-): Secretor or Non-Secretor (w or lele)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

What is caused by a mutation in the Le gene?

A

Non-secretors and secretors with the phenotype Le (a-b-)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

What antigen is present in the Le(a-b-) secretor?

A

Type 1 H substance: Le d

85
Q

What substances are present in the secretions of individuals with the Le, Se, A/B/H genotype?

A

A,B,H, Le (a-b+)

86
Q

True or False: Newborns show Lewis antigens immediately after birth.

A

False

87
Q

What happens to Lewis antigen expression during pregnancy?

A

Antigens become weaker

88
Q

At what temperature does Anti-Le a show optimum reactivity?

A

4°C

89
Q

What class of antibody is Anti-Le a?

A

IgM

90
Q

What is the clinical significance of Lewis antibodies?

A

None, does not cross the placenta, not associated with HDN

91
Q

What is the most common anti-Lewis antibody encountered clinically?

A

Anti-Le a

92
Q

What is the Duffy blood group system also known as?

A

ISBT NO.008

93
Q

What are the Duffy antigens expressed on?

A
  • RBCs
  • Cerebellar Purkinje cells
  • Post capillary venule endothelial cells
  • Endothelial cells of renal glomeruli
  • Epithelial cells of renal collecting tubules
  • Vasa recta
  • Thyroid
  • Pulmonary Capillaries
  • Alveolar type 1 squamous cells
94
Q

What is the predominant phenotype of Duffy blood group in blacks?

A

Duffy Null or Fy (a-b-) phenotype

95
Q

What are the common Duffy phenotypes among the White population?

A

49% account for heterozygous for a+ and b+

96
Q

What type of antibodies are Anti-Fya and Anti-Fyb?

A

IgG

97
Q

What is the Kidd blood group system also known as?

A

ISBT NO.009

98
Q

What is the inheritance pattern of Kidd antigens?

A

Codominant allele

99
Q

What clinical significance is associated with Kidd antibodies?

A
  • Delayed hemolytic transfusion reactions
  • HDN
  • Intravascular hemolysis
100
Q

What is the rare phenotype associated with Kidd blood group?

A

Jk null or Jk (a-b-)

101
Q

What is the genotype of individuals with Duffy Null phenotype?

A

FyFy

102
Q

What biological role does the Duffy Null phenotype play in malaria?

A

Provides resistance to Plasmodium vivax and Plasmodium knowlesi

103
Q

What type of reaction does Anti-Jk antibodies commonly cause?

A

Delayed hemolytic transfusion reactions

104
Q

What antigens are found in the Kidd blood group?

A
  • Jka
  • Jkb
  • Jk3 (common)
105
Q

What is the optimum temperature of reactivity for Duffy antibodies?

A

37 degrees Celsius

106
Q

What is the association of the Duffy Null phenotype with health?

A
  • Lower neutrophil counts
  • Susceptibility to infection
  • Renal disease
  • Reduced graft survival following renal transplantation
107
Q

What is the significance of the DARC receptor?

A

Facilitates leukocyte recruitment to sites of inflammation

108
Q

What can cause negative results for anti-Jk antibodies in later blood samples?

A

Plasma dilution due to body fluids and IV solutions

After transfusion, antibodies may not be detected if diluted.

109
Q

What happens following the transfusion of crossmatch-compatible Jk-positive RBCs in sensitized patients?

A

Brisk anamnestic antibody response with rapid in vivo hemolysis

RBCs are cleared by extravascular and intravascular hemolysis.

110
Q

Why is it advised to not request a repeat crossmatching of the same blood unit?

A

Antibodies may not be detected on the second test due to dilution or transient disappearance

Antibodies may have an inconsistent pattern of reactivity.

111
Q

What is the potential disadvantage of under-reporting antibody presence?

A

Possibility of transfusing incompatible blood

Over-reporting only risks delayed transfusion.

112
Q

What mild condition can anti-Jk antibodies cause?

A

Mild hemolytic disease of the fetus and newborn (HDFN)

This is uncommon but possible.

113
Q

What is the notorious reputation of anti-Jk antibodies in blood banking?

A

Implication in delayed hemolytic transfusion reactions

They are significant in transfusion medicine.

114
Q

Which RBCs do anti-Jk3 react with?

A

All RBCs except Jknull

Observed in individuals with Jknull phenotype.

115
Q

What is the biological role of JK/UT-B?

A

Facilitated transport of urea

Helps stabilize osmotic gradients in the renal medulla.

116
Q

What significant change occurs in i and I antigens from birth to adulthood?

A

Decrease in i antigen and increase in I antigen

Transition observed by 18-24 months of age.

117
Q

What is the phenotype of newborns concerning I and i antigens?

A

Newborns exhibit small i antigen with little big I antigen

Small i is replaced by big I over time.

118
Q

What rare phenotype is associated with elevated small i antigen?

A

Small i adult phenotype

Found in < 1 in 10,000 donors.

119
Q

What is the association of elevated small i antigen in certain conditions?

A

Observed in megaloblastic anemia, leukemia, and chronic hemolytic states

Indicates stressed erythropoiesis.

120
Q

What are the two antibodies of the I blood group?

A

Anti-I and Anti-i

Both may mask clinically significant antibodies.

121
Q

What type of antibody is Anti-I, and what are its characteristics?

A

IgM; can be benign or pathogenic

Strong reactions with adult cells, weak with cord cells.

122
Q

What is the clinical significance of pathogenic Anti-I?

A

Causes autoagglutination and vascular occlusion

Associated with cold agglutinin disease.

123
Q

What infections are associated with the production of auto Anti-I?

A

Infectious Mononucleosis, Mycoplasma pneumoniae, Listeria monocytogenes

Also seen in lymphoproliferative disorders.

124
Q

What is the role of Anti-i antibodies?

A

React best with saline-suspended cells at 4 degrees Celsius

Associated with various conditions including infectious mononucleosis.

125
Q

What is the Diego blood group system characterized by?

A

22 antigens including 3 sets of allelic antigens

Rare, low-incidence antigens present on less than 1% of donors.

126
Q

What is the prevalence of Diego a (Dia) antigen among different populations?

A

Rare (0.01%) among whites; 54% among South Americans; 5% Chinese; 12% Japanese

Useful tool for anthropological studies.

127
Q

What is the commonality of Anti-Yta and Anti-Ytb antibodies?

A

Anti-Yta is more common than Anti-Ytb

Suggests Yta is more immunogenic.

128
Q

What is the role of AChE in the body?

A

Critical enzyme for the degradation of acetylcholine

Involved in neurotransmission and muscle function.

129
Q

What is the Xg blood group system associated with?

A

Encoded by a gene on the X chromosome

Higher incidence of Xga-positive phenotype among women.

130
Q

What characteristics define the Scianna blood group system?

A

Located on chromosome 1; associated with the ERMAP-RBC adhesion protein

Contains 7 antigens, including Sc1 and Sc2.

131
Q

What are antibodies not associated with?

A

Hemolytic transfusion reactions or HDFN

132
Q

What is the most common isotype of antibodies in the Scianna blood group system?

A

IgG

133
Q

Where is the Scianna blood group system located?

A

Chromosome 1

134
Q

How many antigens are in the Scianna blood group system?

A

7 antigens

135
Q

What are the two antithetical antigens in the Scianna blood group system?

A

Sc1 and Sc2

136
Q

What is the high-incidence antigen present on all RBCs except Sc null?

A

Sc3

137
Q

What is the biological role of ERMAP?

A

Unknown, but may play a role in RBC adhesion and signaling

138
Q

What is the Dombrock blood group system gene?

A

ART4

139
Q

How many antigens are present in the Dombrock blood group system?

A

10 antigens

140
Q

What are the high-incidence antigens in the Dombrock blood group system?

A

Gya, Hy, Joa, DOYA, and DOMR

141
Q

What is the phenotype associated with paroxysmal nocturnal hemoglobinuria type III?

A

Acquired DOnull phenotype

142
Q

What is the typical isotype of Dombrock antibodies?

A

IgG

143
Q

What can anti-Dombrock antibodies cause?

A

Shortened RBC survival and acute and delayed hemolytic transfusion reactions

144
Q

What is the gene for the Colton blood group system?

A

AQP1

145
Q

How many antigens are there in the Colton blood group system?

A

4 antigens

146
Q

What is the major molecular water channel on RBCs?

A

AQP-1

147
Q

What is the gene associated with the LW blood group system?

A

ICAM4

148
Q

What are the antigens in the LW blood group system?

A

LWa, LWab, and LWb

149
Q

What is the biological role of LW glycoprotein?

A

May participate in adhesive interactions during early erythroid development

150
Q

What are the genes associated with the Chido/Rodgers blood group system?

A

C4A and C4B

151
Q

What is the characteristic of the antigens in the Chido/Rodgers blood group system?

A

Most are high prevalence and of plasma origin

152
Q

What is the gene for the Gerbich blood group system?

A

GYPC

153
Q

How many antigens are in the Gerbich blood group system?

A

11 antigens

154
Q

What is the common Gerbich antibody?

A

Anti-Ge2

155
Q

What is the biological role of GYPC and GYPD?

A

Maintain RBC membrane integrity through interaction with protein band 4.1

156
Q

Fill in the blank: The _____ phenotype is inherited as an autosomal recessive phenotype.

A

[DOnull or Gy(a-)]

157
Q

True or False: Anti-Dombrock is associated with HDFN.

A

False

158
Q

What can enhance the reactivity of anti-Colton antibodies?

A

Protease-treated RBCs

159
Q

What is the null phenotype of the LW blood group system?

A

LW (a-b-)

160
Q

What phenomenon is associated with the absence of clinically significant hematologic sequelae in COnull individuals?

A

Presence of a second aquaporin, AQP-3

161
Q

What is the biological role of GYPC and GYPD?

A

Maintain RBC membrane integrity through interaction with protein band 4.1 and p55

They help anchor the membrane to the underlying cytoskeleton

162
Q

What happens to GYPC and GYPD in patients with protein 4.1 deficiency?

A

They are decreased

75% is normal

163
Q

What is the Ge null (Leach) phenotype associated with?

A

Marked elliptocytosis due to reduced membrane stability and deformability of GYPC

May also bind specific P. falciparum strains

164
Q

What is the gene associated with the Cromer blood group system?

A

CD55

Located on chromosome 1 at position 1q32

165
Q

How are Cromer antigens affected by enzyme treatment?

A

Resistant to ficin and papain but destroyed by α chymotrypsin

Weakened with DTT treatment

166
Q

How many antigens does the Cromer blood group system contain?

A

16 antigens

Includes 3 low-incidence antigens and 13 high-incidence antigens

167
Q

What characterizes the Cromer null (Inab) phenotype?

A

Complete absence of all Cromer antigens

Normal expression of CD59 and other GPI-linked glycoproteins

168
Q

What type of antibodies are usually associated with the Cromer blood group system?

A

Usually IgG

Do not cause HDFN

169
Q

What is the biological role of CD55/DAF?

A

Complement regulating protein

Protects cells from complement by promoting the decay of C3 convertases

170
Q

What is the gene associated with the Knops blood group system?

A

CR1

Located on chromosome 1 at position 1q32.2

171
Q

How many antigens are included in the Knops blood group system?

A

10–12 antigens

Includes six antithetical antigens

172
Q

What is the Knops null phenotype known as?

A

Helgeson phenotype

Kn(a-b-), McC(a-), Sl(a-), and Yk(a-)

173
Q

What is the gene associated with the Indian blood group system?

A

CD44

Located on chromosome 11 at position 11p13

174
Q

What are the two antithetical antigens in the Indian blood group system?

A

Inᵃ (IN1) and Inᵇ (IN2)

IN1 is a high-frequency allele

175
Q

What is the primary biological role of CD44?

A

Major adhesion molecule on leukocytes

Binds extracellular matrix proteins

176
Q

What is the gene associated with the OK blood group system?

A

BSG

Located on chromosome 19 at position 19p13.3

177
Q

What is the main antigen in the OK blood group system?

A

Oka

Residing on CD147

178
Q

What is the gene associated with the RAPH blood group system?

A

CD151

Located on chromosome 11 at position 11p15.5

179
Q

What antigen is contained in the RAPH blood group system?

A

RAPH or MER2

Located on CD151

180
Q

What is a characteristic of the MER2-negative phenotype?

A

Identified in individuals with nephrotic syndrome and end-stage renal disease

Associated with frameshift mutations

181
Q

What type of antibodies are known in the RAPH blood group system?

A

Anti-MER2

Usually of IgG isotype, arising from transfusion and pregnancy

182
Q

What is CD151?

A

A tetraspanin essential for the assembly of basement membranes in the kidney and skin, ears

CD151 plays a role in the clustering of tetraspanin and β1 integrins, important in laminin adhesion.

183
Q

What are the consequences of frameshift mutations in CD151?

A

Renal disease and neurosensory deafness

Observed in all three patients with such mutations.

184
Q

Where is CD151 widely expressed?

A

On:
* Epithelium
* Fibroblasts
* Endothelium
* Muscle
* Renal glomeruli and tubules
* CD34 cells
* Early erythroid precursors
* Megakaryocytes
* Platelets

185
Q

What is the gene associated with the JMH blood group system?

A

SEMA7A, located on chromosome 15

186
Q

List the antigens in the JMH blood group system.

A

JMH1, JMH2, JMH3, JMH4, JMH5, JMH6

187
Q

How is JMH antigen expressed on cord RBCs?

A

Weakly expressed and destroyed by enzymes (ficin, papain, DTT)

Resistant to treatment with glycine-acid EDTA.

188
Q

What happens to JMH antigen as one ages?

A

JMH antigen declines later in life

189
Q

Where is JMH antigen found?

A

On:
* RBCs
* Lymphocytes
* Activated macrophages
* Thymus
* Brain
* Respiratory epithelium
* Placenta
* Testes
* Spleen

190
Q

What are the variant and null phenotypes associated with JMH?

A

JMH weak, JMH variant, and JMH negative

An acquired, JMH weak to negative phenotype can occur in the elderly, accompanied by JMH autoantibodies.

191
Q

What type of antibodies are associated with JMH?

A

Anti-JMH

Do not cause hemolytic transfusion reactions or HDFN, though shortened RBC survival has been documented in some patients.

192
Q

What is the biological role of SEMA7A?

A

Semaphorin proteins are implicated in cell signaling and can modulate cellular immunity

Effects include inhibiting NK cell proliferation and stimulating chemotaxis.

193
Q

What is the gene associated with the GIL blood group system?

A

AQP3, located on chromosome 9 at position 9p13

194
Q

What is the high-incidence antigen in the GIL blood group system?

A

GIL

195
Q

List the tissues where GIL protein is highly expressed.

A

On:
* RBCs
* Kidney
* Small intestine
* Stomach
* Colon
* Spleen
* Eye
* Respiratory tract

196
Q

What is the biological role of AQP3?

A

Membrane channel capable of transporting urea on red cells

May play a role in malaria infection.

197
Q

What is the RHAG gene associated with?

A

The RH associated glycoprotein system, located on chromosome 6

198
Q

What antigens are associated with the JR blood group system?

A

Jra

199
Q

What is the significance of the Jr(a-) phenotype?

A

More common in Japan

Fully developed at birth and resistant to common enzymes.

200
Q

What is the gene associated with the FORS blood group system?

A

GBGT1, located on chromosome 9

201
Q

What is the antigen in the FORS blood group system?

A

FORS1

202
Q

What is the significance of the Lan blood group system?

A

Contains a high-incidence antigen expressed on ABCB6

Defects in ABCB6 have been associated with familial pseudohyperkalemia and ocular coloboma.

203
Q

What is the gene associated with the Vel blood group system?

A

SMIM1, located at chromosome 1

204
Q

What is the single high-incidence antigen in the Vel blood group system?

A

Vel

205
Q

What is the clinical significance of Anti-Vel antibodies?

A

Can cause acute and delayed hemolytic transfusion reactions and HDFN

Historically considered a high-titer, low avidity antibody.

206
Q

What is the gene associated with the AUG blood group system?

A

SLC29A1, located on chromosome 6 at position 6p.21.1

207
Q

What are the antigens in the AUG blood group system?

A

AUG1 = null phenotype, AUG2 (Ata) = high-prevalence antigen

208
Q

What is the clinical significance of Anti-Ata antibodies?

A

Cause severe hemolytic transfusion reactions and mild cases of HDFN