UNCOMMON BLOOD GROUPS

Diego System

The system was named after the first antibody maker in a Venezuelan family during an investigation of HDFN.

Band 3

The Diego antigens are carried on?

• AE1 (RBC Anion Exchanger)

• SLC4A1 (Solute carrier family-4 anion exchanger)

Band 3 is also known as?

Dia

It is rare in most populations but is polymorphic in people of Mongoloid ancestry.

7th (last)

The Dia/Dib polymorphism is located on the ___ extracellular loop of the protein.

Wra and Wrb

They are associated with an amino acid substitution on the fourth external loop, close to the insertion point of the protein into the RBC membrane.

• Severe HTR

• Warm Autoimmune Hemolytic Anemia

• Severe HDFN

• Anti-Wra is seen in?

• Autoanti-Wrb is seen in?

• Anti-ELO is seen in?

Yt System

It is named in 1956 for the first antibody maker and used the last letter “t” in the patient’s last name, which was Cartwright.

Yt (a-b+)

What phenotype in the Yt system is rare?

Yt antigens

They are antithetical and represent an amino acid substitution on the glycosylphosphatidylinositol (GPI) linked RBC glycoprotein acetylcholinesterase (AChE).

PNH (Paroxysmal Nocturnal Hemoglobinura)

Yt antigens are absent in people with?

Monocyte phagocytosis assays

How to determine the clinical significance of anti-Yta?

• X chromosome

• Grand Rapids

Xg is named after?

• Xga

• CD99

What are the 2 antigens in XG System?

• Xga

• CD99

These antigens escape X chromosome inactivation.

• Sc1 and Sc2

• Sm and Bua

• Scianna System antigens

• What are they originally called?

Individual in the Marshall Islands in the South Pacific

Where was Sc: -1,-2 found?

Sc -1-2-3

The Scianna null phenotype

• Gya

• Hy

• Joa

• Doa

• Dob

Dombrock antigens

ART4 (Mono-ADP-Ribosyltransferase 4)

Dombrock antigens are carried on?

Colton System

The system was named in 1967 for the first antibody maker; however, the handwriting on the tube was misread.

• Coa

• Cob

• Co3

Antigens in Colton System

Integral membrane protein, aquaporin 1 (AQP1)

Colton antigens are carried on?

Aquaporin 1

This is responsible for 80% water reabsorption in the kidneys.

• Anti-D

• Anti-LW

• Human anti-Rh

• Rabbits anti-Rh

• LW5

• LW6

• LW7

What are the antigen numbers?

• LWa

• LWab

• LWb

LWab

This antigen is seen in LW(a-b-) phenotype

LW (a-b-)

This phenotype resulted from a 10-base pair deletion in exon 1 of an LWa gene, which introduced a premature stop codon.

Rhnull ; LW(a-b-)

The only true LW-RBCs because they fail to elicit the formation of anti-LW in animals.

ICAM4 (intracellular adhesion molecule 4)

» A member of the immunoglobulin superfamily.

It carries LW antigens

• Pregnancy

• Lymphoma

• Leukemia

LW antigens are decreased in?

Warm autoimmune hemolytic anemia

Autoanti-LW is seen in?

Chido and Rodgers antigens

They were both characterized as nebulous because antigen strength on different samples of RBCs was variable.

Plasma

It was also appreciated that both anti-Ch and anti-Rg could be neutralized by?

4th

Ch and Rg antigens are not intrinsic to the RBC membrane. Rather, they are on the ___ component of complement.

• Ch → C4B

• Rg → C4A

Isoforms of C4 glycoprotein that carries:

• Ch antigens

• Rg antigens

GPC and GPD glycoproteins (Gerbich System)

They are rich in sialic acid and they contribute to the net negative charge of the RBC membrane.

• Yus type

• Leach type

• Gerbich type

Determine the type.

• Ge: -2,3,4

• Ge: -2,-3,-4

• Ge: -2,-3,4

Leach type

Gerbich null

• Yus type - Mexicans, Israelis, Mediterraneans

• Gerbich - Papua New Guinea, Japanese, Polynesians

• Leach Type - Papua New Guinea, Melanasia

The ff. Gerbich phenotypes are mostly seen in?

• Yus type

• Gerbich type

• Leach type

• Elliptocytic

• Mild anemia

The RBCs of Ge null phenotype are ___ and these individuals may have a ___ ____.

Decay-accelerating factor (DAF, CD55)

a complement regulatory protein.

The antigens of the Cromer system are carried on?

Inab phenotype

Cromer null phenotype

CROK (CROM19)

A novel Inab-like phenotype with a mutation that affects the expression of the Cromer antigens.

• Tca, WESb

• WESa

• High prevalence antigens in Cromer system

• Low prevalence

Dr(a-)

Has weakened expression of all other high-prevalence Cromer antigens due to a markedly reduced copy number of DAF.

Anti-IFC

This is the antibody made by individuals with the Cromer null Inab phenotype.

Complement Receptor 1

Knops system is seen in what gene?

Knops antigens

These antigens have been grouped together because their antibodies demonstrate variable reactions, are not neutralized by pooled normal serum, and are difficult to adsorb and elute.

Helgeson Phenotype

Knops null phenotype

• Kn(a–b–)

• McC(a–)

• Sl(a–)

• Yk(a–)

They have low number of CR1

CR1 → C3b and C4b

It processes immune complexes for transporta tion to the liver and spleen and subsequent clearance from the circulation.

Congenital Dyserythropoietic Anemia

The extremely rare In(a–b–) phenotype (Indian null) has been found in only one individual who presented with>

CD44

An adhesion molecule seen in Indian system

OK System - Basigin

It is a receptor essential for invasion by Plasmodium falciparum.

Anti-Oka

This antibody caused reduced survival of Cr-labeled Ok(a+) RBCs injected into the original antibody maker, suggesting clinical significance.

Raph System

The only antigen in this system is MER2

• Monoclonal

• Eleanor

• Roosevelt

MER2 stands for?

Patients with end-stage renal disease

Alloanti-MER2 is seen in?

Tetraspin (CD151)

MER2 is seen in this, which is essential for the assembly of basement membranes in the kidney and skin.

SEMA7A

It is a GPI-linked glycoprotein where the John Milton Hagen System is seen.

Anti-JMH

These antibodies are often high titer but weakly reactive, even when tested without dilution, and they are not neutralized with pooled plasma.

Aquaporin 3

The Gill System is found on this, a a member of the major intrinsic protein family of water and glycerol channels.

• Rhnull

• Rhmod

• Absence of RhAG due to inactivating mutations in RHAG results in the?

• Missense mutations in RHAG results in?

False. They do not have them.

True or False.

RHAG does have Rh blood group antigens.

• Duclos (high prevalence)

• Ola (very rare, low prevalence)

• DSLK (Duclos-like, high)

• RHAG4

What are the 4 antigens in the RHAG system?

Apae

Forssman glycosphingolipid was first thought to be a subgroup of A called?

GBGT1 gene

This gene produces glycosyltransferase, which causes the formation of the Forssman glycolipid by the addition of N-acetylgalactosamine (GalNAc) to the P antigen.

Group O with FORS1

These group do not react with Dolichos biflorus.

Forssman Glycolipid (FORS1)

It serve as a receptor for pathogens such as Escherichia coli.

ABCG2

A member of the adenosine triphosphate (ATP) binding cassette transporters broadly distributed throughout the body.

JR System - ABCG2

It is involved in multidrug resistance in tumor cells, presenting a problem in chemotherapy

Lan

It is named after the first antigen-negative proband, Langereis.

Lan antigen

It is a high-incidence antigen that was raised from the 901 series of high-incidence antigens to system status in 2012.

ABCB6

It functions in heme synthesis with the ATP-dependent uptake of heme and porphyrins into mitochondria.

SM1M1

It is a single-pass integral membrane protein that was shown to produce the Vel– phenotype.

Anti-VEL

It is characterized by its ability to activate complement and cause in vitro and in vivo hemolysis.

CD59

It is a GPI-linked complement-regulatory glycoprotein also known as the membrane inhibitor of lysis (MIRL).

CD59

It plays a key role in protecting against complement regulated hemolysis by binding to C8 and C9 thus interfering with the formation of the membrane-attach complex (MAC).

Paroxysmal Nocturnal Hemoglobinuria

It is an acquired hemolytic anemia caused by a mutation in the GPI-linker gene.

• PNH

• Hemolysis

• Stroke

• Neuropathy

Patients with CD59 deficiency show the ff. conditions

SLC29A1 (AUG gene)

It encodes the equilibrative nucleoside transporter 2 (ENT2).

ISBT Blood Group Collections (200 series)

Collections are antigens that have a biochemical, serologic, or genetic relationship but do not meet the criteria for a system.

Cost collection

It is formally referred to as Cost-Sterling and is linked with the Knops system.

LKE

The Globoside collection currently consists of one high prevalence antigen, which is?

Collection 210

This consist of two antigens, Lec and Led, which are glycosphingolipid adsorbed onto RBCs. They are precursors of the Lewis antigens.

MN CHO Collection 213

The antigens are associated with the M or N antigen in the MNS (002) system and are expressed on GPA with altered levels of sialic acid (NeuNAc) or GlcNAc.

Hu antigen

It was formerly called Hunter after the donor of the RBCs used to immunize rabbits in 1934. It has a strong link to the Sext antigen.

• Hu antigen

• M1 antigen

• Sheerin antigen → Tm

• Can atigen

• Sext antigen

• Sj antigen

What antigens are seen in MN CHO Collection 213?

ISBT 700 series

It consists of antigens of low-prevalence that represent those with a prevalence of less than 1% of most random populations.

• Unknown maternal antibody causing HDFN

• Unexplained incompatible crossmatch

• Unexplained positive reactivity with antisera

How are low prevalence antigen/ antibodies detected?

ISBT 901 series

It consists of high-prevalence antigens represent those with a prevalence of more than 90% of most random populations.

Emm antigen

It is carried on a GPI-linked protein and paroxysmal nocturnal hemoglobinuria (PNH) patients are deficient in all GPI-linked proteins. It is resistant to all treatments.

Haemophilus influenza

It uses the AnWj antigen as a receptor to enter RBCs.

Sda antigen

It is a high-prevalence carbohydrate antigen named for Sid.

Tamm-Horsfall glycoprotein

The soluble form of Sda is _____ found in urine.

ABTI antigen

It was reported with the detection of anti-ABTI in three multiparous women of an inbred Israeli-Arab family.

Anti-MAM

It can cause neonatal thrombocytopenia