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Questions and Answers

Who discovered the ABO blood groups?

  • Karl Landsteiner (correct)
  • Charles Drew
  • Edward E. Lindemann
  • Braxton Hicks

In what year did the first blood transfusion occur?

  • 1492 (correct)
  • 1869
  • 1901
  • 1914

Who recommended sodium phosphate as an anticoagulant?

  • Charles Drew
  • Braxton Hicks (correct)
  • Edward E. Lindemann
  • Karl Landsteiner

What anticoagulant did Hustin first use for blood transfusions?

<p>Sodium citrate (A)</p> Signup and view all the answers

Who introduced Citrate Dextrose for glucose evaluation?

<p>Rous and Turner (C)</p> Signup and view all the answers

Who developed blood transfusion and preservation techniques?

<p>Charles Drew (A)</p> Signup and view all the answers

In what year was Acid Citrate Dextrose (ACD) introduced?

<p>1943 (C)</p> Signup and view all the answers

Who introduced Citrate Phosphate Dextrose (PCD) as an improved preservative?

<p>Gibson (B)</p> Signup and view all the answers

What did Lewisohn discover regarding sodium citrate?

<p>Minimum amount needed for anticoagulation. (A)</p> Signup and view all the answers

What is the advantage of component therapy?

<p>One blood bag can serve multiple patients (B)</p> Signup and view all the answers

Which function is NOT a primary role of the immune system?

<p>Digestion (D)</p> Signup and view all the answers

What is the ability of the immune system to differentiate between the body's own cells and foreign substances called?

<p>Self-recognition (C)</p> Signup and view all the answers

Which of the following is considered a physical barrier of the innate immune system?

<p>Skin (D)</p> Signup and view all the answers

Which granulocyte is most numerous and active during bacterial infections?

<p>Neutrophil (A)</p> Signup and view all the answers

What is the function of the monocyte-macrophage cell system?

<p>To present antigens (D)</p> Signup and view all the answers

From which cells are antibodies produced?

<p>B cells (B)</p> Signup and view all the answers

Where do T lymphocytes primarily mature?

<p>Thymus (A)</p> Signup and view all the answers

Which cells release chemicals to kill infected cells, foreign cells, as well as tumor cells?

<p>Natural killer cells (B)</p> Signup and view all the answers

What is the term for antigens from a different individual of the same species?

<p>Allogeneic (B)</p> Signup and view all the answers

Which type of molecules are generally the best at inducing an immune response due to their complexity?

<p>Proteins (C)</p> Signup and view all the answers

Which region of an antibody is responsible for binding to an antigen?

<p>Variable region (C)</p> Signup and view all the answers

Which antibody is made up of five units of antibodies and is the largest?

<p>IgM (C)</p> Signup and view all the answers

Which antibody is predominant in the secondary response and is most clinically significant in blood banking?

<p>IgG (C)</p> Signup and view all the answers

Which of the following is a function of the complement system?

<p>Opsonization (C)</p> Signup and view all the answers

Which of the following antibodies CANNOT activate the complement pathway?

<p>IgA (A)</p> Signup and view all the answers

What component directly causes hemolysis when IgG antibodies are involved?

<p>Complement (A)</p> Signup and view all the answers

Which antibodies are considered most important in blood banking?

<p>IgM and IgG (A)</p> Signup and view all the answers

Antibodies against which type of antigen will always be of IgM and IgG forms?

<p>Blood group antigens (D)</p> Signup and view all the answers

In which zone are there more antibodies present than antigens?

<p>Prozone (C)</p> Signup and view all the answers

In the context of antigen-antibody reactions, when does a false negative result ALWAYS occur?

<p>In both the prozone and postzone (D)</p> Signup and view all the answers

What is responsible for the negative charge on red blood cells?

<p>Glycophorins (B)</p> Signup and view all the answers

What term describes the distance between red blood cells?

<p>Zeta potential (C)</p> Signup and view all the answers

What does AHG (Antihuman Globulin) directly bind to?

<p>The Fc portion of the antibody (B)</p> Signup and view all the answers

Why is AHG not as important for IgM detection compared to IgG?

<p>The Fc portion of IgM is inaccessible for AHG binding (B)</p> Signup and view all the answers

What is the purpose of using Low Ionic Strength Solution (LISS)?

<p>To decrease incubation time (D)</p> Signup and view all the answers

What is the optimal incubation temperature for IgM?

<p>4 degrees Celsius (D)</p> Signup and view all the answers

What is the importance of washing red cells before preparing a red cell suspension?

<p>To remove impurities and prevent false reactions (C)</p> Signup and view all the answers

What causes rouleaux formation?

<p>Increased CRP (D)</p> Signup and view all the answers

What do enzymes remove from the red cell surface?

<p>Sialic acid residues (D)</p> Signup and view all the answers

What is NOT a use for the eluent?

<p>Red cell suspension (B)</p> Signup and view all the answers

What is the primary function of a gene?

<p>To code for the production of proteins. (C)</p> Signup and view all the answers

What does the term 'phenotype' refer to in genetics?

<p>The outward expression of genes, such as antigens on red cells. (D)</p> Signup and view all the answers

If two individuals have the same phenotype, what can be said about their genotypes?

<p>They cannot have the same genotype. (A)</p> Signup and view all the answers

What determines if a gene is dominant?

<p>Its ability to lead to antigen expression. (C)</p> Signup and view all the answers

Where are genes specifically located?

<p>In specific loci on a particular chromosome. (A)</p> Signup and view all the answers

What are alleles?

<p>Variations of a particular gene. (D)</p> Signup and view all the answers

What is the term for genes that are opposite each other on a chromosome?

<p>Antithetical (D)</p> Signup and view all the answers

What is a 'null' gene?

<p>A gene that has no detectable product. (D)</p> Signup and view all the answers

What term refers to a situation where more than one allele occupies a particular locus?

<p>Polymorphic (A)</p> Signup and view all the answers

What is the term for a gene that prevents other genes from being expressed?

<p>Suppressor gene (C)</p> Signup and view all the answers

What principle states that each parent contributes one gene from a pair of genes for a particular trait?

<p>Independent Segregation (A)</p> Signup and view all the answers

What term describes genes that are inherited together because of their close proximity on a chromosome?

<p>Linkage (B)</p> Signup and view all the answers

What process involves the exchange of genetic material during cell division?

<p>Crossing over (D)</p> Signup and view all the answers

What is the purpose of population genetics in blood banking?

<p>To determine frequency of a particular phenotype to find compatible donor units. (C)</p> Signup and view all the answers

According to the Hardy-Weinberg equation, what does 'p' represent?

<p>The frequency of the dominant allele in a population. (C)</p> Signup and view all the answers

What type of molecules primarily compose red cells?

<p>Proteins (D)</p> Signup and view all the answers

At which chromosome can one find genes for the ABO blood group?

<p>Chromosome 9 (A)</p> Signup and view all the answers

What term refers to the transfer of sugar molecules on a precursor substance to create specific ABO antigens?

<p>Glycosyltransferase (A)</p> Signup and view all the answers

What is the basic precursor substance for A, B, and H antigens?

<p>Paragloboside (A)</p> Signup and view all the answers

Which type of precursor substance is present on the red cell surface?

<p>Type 2 precursor substance (B)</p> Signup and view all the answers

Specifically, to which carbon on the terminal galactose does fucose attach to form the H antigen?

<p>Second carbon (B)</p> Signup and view all the answers

What is the immunodominant sugar for the H antigen?

<p>L-fucose (C)</p> Signup and view all the answers

What enzyme is coded to attach fucose to the terminal sugar of paragloboside?

<p>Alpha-2-L-fucosyltransferase (D)</p> Signup and view all the answers

What happens if someone inherits a double dose of the 'h' gene?

<p>No expression of the H antigen (A)</p> Signup and view all the answers

Which of the following is TRUE for individuals with the Bombay phenotype?

<p>They have anti-H in their serum. (D)</p> Signup and view all the answers

What enzyme does the A allele code for?

<p>Alpha-3-N-acetylgalactosaminyltransferase (D)</p> Signup and view all the answers

What is the immunodominant sugar that the A transferase adds?

<p>N-acetyl-D-galactosamine (C)</p> Signup and view all the answers

What is the immunodominant sugar is added by the enzyme coded by the B gene?

<p>D-galactose (C)</p> Signup and view all the answers

What best describes why the A and B transferases (enzymes) add different sugars to H-antigen?

<p>They have different amino acid sequences (A)</p> Signup and view all the answers

For ABO antigens to be expressed in secretions, which genes must be inherited?

<p>Hh and Se genes (B)</p> Signup and view all the answers

What is the predominant immunoglobulin class of ABO antibodies?

<p>IgM (A)</p> Signup and view all the answers

At which temperature do ABO antibodies react preferentially?

<p>22-24°C (C)</p> Signup and view all the answers

What is the universal donor blood type?

<p>Type O (A)</p> Signup and view all the answers

In forward typing, what is identified?

<p>Antigens present on the patient's red cells (A)</p> Signup and view all the answers

Which scientist initially described two antigens of the A phenotype?

<p>Emil von Dungern (D)</p> Signup and view all the answers

Differentiation between A1 and A2 subgroups is based on what?

<p>The number and structure of antigens (A)</p> Signup and view all the answers

Which subgroup has more antigen sites on their red cells?

<p>A1 (A)</p> Signup and view all the answers

Which antigen is present in A2 individuals?

<p>Linear A antigen only (D)</p> Signup and view all the answers

What is the percentage of A2 individuals who can produce anti-A1 antibodies?

<p>1-8% (D)</p> Signup and view all the answers

Which red blood cells cannot recognize A1 antigens?

<p>A2 (B)</p> Signup and view all the answers

If an A2 individual receives a transfusion of A1 red cells, why is it usually clinically insignificant?

<p>The anti-A1 antibody is typically IgM and reacts at room temperature. (D)</p> Signup and view all the answers

Why can blood typing discrepancies occur in A2 individuals during forward and reverse typing?

<p>Because they might produce anti-A1 antibodies. (A)</p> Signup and view all the answers

What type of H antigen do A1 individuals have?

<p>Linear (H1, H2) (A)</p> Signup and view all the answers

Why do A1 individuals have more efficient transferase enzymes compared to A2 individuals?

<p>The A1 gene codes for a more efficient enzyme. (B)</p> Signup and view all the answers

Which of the following best describes the A antigens found on the red cells of A1 individuals?

<p>Both linear and branched A antigens (D)</p> Signup and view all the answers

What type of antibody is typically produced by A2 individuals?

<p>Anti-A1 (C)</p> Signup and view all the answers

What reagent identifies A1 cells?

<p>Anti-A1 lectin (Dolichos biflorus) (B)</p> Signup and view all the answers

If an A subgroup shows weak agglutination with anti-A and anti-A,B, what reagent is recommended?

<p>Anti-H lectin (B)</p> Signup and view all the answers

What is the nature of the antibodies present in Bombay phenotype individuals?

<p>Anti-A, Anti-B, and Anti-H (B)</p> Signup and view all the answers

What is the most common error in the laboratory that leads to ABO discrepancies?

<p>Identification and documentation error (A)</p> Signup and view all the answers

In ABO discrepancies, what agglutination strength is typically expected in routine ABO reactions?

<p>3+ to 4+ (D)</p> Signup and view all the answers

What type of reactions are MOST frequently seen in Group I discrepancies?

<p>Unexpected reactions in the serum/reverse typing (A)</p> Signup and view all the answers

What situation can lead to ABO antibodies being diluted by plasma?

<p>Plasma transfusion (D)</p> Signup and view all the answers

Why is forward typing preferred over reverse typing for determining the ABO blood group of newborns?

<p>Antibodies present in the newborn's plasma are primarily maternal in origin (B)</p> Signup and view all the answers

What is a characteristic of true chimerism?

<p>A two-cell population in a single individual (A)</p> Signup and view all the answers

An individual with an acquired B phenomenon would test with what antisera?

<p>Strong with anti-A, weak with anti-B (B)</p> Signup and view all the answers

What is the purpose of performing a saline replacement procedure?

<p>To resolve rouleaux formation (D)</p> Signup and view all the answers

What is the main characteristic of Group IV discrepancies?

<p>Problems in both forward and reverse typing (D)</p> Signup and view all the answers

In the context of ABO discrepancies, what are cold autoagglutinins?

<p>Antibodies that react at lower temperatures and can cause agglutination (A)</p> Signup and view all the answers

Flashcards

First Blood Transfusion (1492)

In 1492, blood was extracted from three men and given to Pope Innocent VII, but all of them died, marking an early attempt at blood transfusion with fatal consequences.

Braxton Hicks and Sodium Phosphate

Braxton Hicks recommended sodium phosphate as an anticoagulant in 1869, marking a significant step forward in preventing blood clotting during medical procedures.

Karl Landsteiner's Discovery

Karl Landsteiner discovered the ABO blood groups in 1901 and discussed mismatched blood transfusion reactions, earning him a Nobel Prize.

Edward E. Lindemann's Transfusion

Edward E. Lindemann performed vein-to-vein transfusion using syringes and cannula able to puncture skin.

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Sodium Citrate as Anticoagulant

In 1914, Hustin was the first to use sodium citrate as an anticoagulant for blood transfusions.

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Lewisohn and Citrate Concentration

Lewisohn determined the minimum amount of sodium citrate needed for anticoagulation and showed its nontoxicity in minute amounts.

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Citrate Dextrose Solution

Rous and Turner introduced citrate dextrose solution for glucose evaluation in 1916, though the importance of glucose was not discovered until the 1930s.

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Dr. Charles Drew's Contribution

Dr. Charles Drew developed blood transfusion and preservation techniques, which formed the foundation of the blood banking system and became the model for the American Red Cross.

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Acid Citrate Dextrose (ACD)

Loutit and Mollison introduced the acid citrate dextrose (ACD) formula in 1943.

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Citrate Phosphate Dextrose (PCD)

Gibson introduced an improved anticoagulant called citrate phosphate dextrose (PCD), which replaced ACD as the standard preservative for storing blood.

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Immune System

Integrated network of cells, tissues, organs, mechanical barriers, and secreted molecules that defend the body.

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Self/Non-self Recognition

Ability to distinguish between self and non-self antigens, eliminating the latter.

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Homeostasis in Immunity

The body's capacity to maintain a stable internal environment during immune responses.

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Immune Surveillance

Detecting and eliminating any overgrowth of a particular cell population, such as in tumor formation.

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Physical Barriers

Cells and tissues including skin and mucous membranes that create a barrier to defend the body.

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Antigen-Presenting Cells

Cells that capture antigens via phagocytosis, break them down, and present them to T cells.

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T Lymphocytes (T cells)

Lymphocytes that mature in the thymus and are involved in cellular immunity including T helper and T cytotoxic cells.

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Stem Cell Differentiation

The lymphoid stem cell differentiates into lymphoid and myeloid stem cells.

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Granulocytes

Polymorphonuclear cells, including neutrophils, eosinophils, and basophils which are the most common granulocytes.

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Mast Cells

Found in tissues, they are active in eliciting hypersensitivity reactions.

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Basophils

Granulocytes found in the blood that initiate hypersensitivity responses through histamine release.

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Eosinophils

Granulocytes containing major basic protein, essential for fighting off parasites.

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Neutrophils

Most numerous granulocyte, active during infections, especially bacterial infections.

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Innate Immunity

The body's first line of defense, offering a consistent response, irrespective of the pathogen encountered.

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Inflammation

Release of inflammatory mediators, increased blood supply and capillary permeability and leukocyte migration.

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IgM and IgG Importance

IgM and IgG are key in blood banking. IgM focuses on agglutination, while IgG participates in hemolysis via complement activation.

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Concentration Effect

The concentration of antigens and antibodies affects reaction outcomes; imbalances can result in false negatives, either in the prozone (excess antibodies) or postzone (excess antigens).

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False Negative in Serology

False negative results occur when there’s either prozone (excess antibodies) or postzone (excess antigens); it indicates an inaccurate assessment of antigen-antibody reaction.

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Prozone

A phenomenon where more antibodies are present than antigens, potentially leading to a false negative reaction due to antibodies not cross-linking antigens effectively.

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Postzone

The opposite of prozone, where there is an excess of antigens compared to antibodies, also leading to potential false negative results.

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Zeta Potential

Red cells repel each other due to negative charges (Sialic acid residues->Glycophorins) creating a Zeta Potential.

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Antihuman Globulin (AHG)

AHG bridges the gap between IgG molecules attached to red blood cells, enabling agglutination.

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Low Ionic Strength Solution (LISS)

LISS reduces ionic strength, enhancing antigen-antibody binding.

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Bovine Albumin Function

Bovine albumin reduces cell distance, promoting agglutination.

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Importance of Washing

Before red cell suspension in testing, washing removes impurities that could cause false reactions.

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DAT vs IAT

Direct Antiglobulin Test detects in-vivo ,while Indirect detects in-vitro sensitization of red blood cells.

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Polyspecific AHG

A broad-spectrum reagent that detects both IgG and C3d on red cells, used for initial screening.

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Monospecific AHG

Reagent testing for either IgG or C3d, for confirmatory testing.

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Coombs Check Cells

Added to negative AHG tests to rule out false negatives due to inactive AHG or inadequate washing.

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Cell Dosage

The number of antigens on red cells varies depending on the inherited genes, resulting in differences in the strength of reactions.

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Gene

The basic unit of heredity, responsible for producing proteins, the main component of the human body.

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Codon Transcription

A segment of DNA that codes for a particular amino acid, eventually forming tissues, organs, and organ systems.

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Nucleus

Cellular structure housing chromosomes, crucial for gene location and function.

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Genotype

Responsible for the expression of genes; if an individual's blood type is B, the phenotype is B, and the genotype is either homozygous BB or heterozygous BO.

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Phenotype

Observable expression of genes; antigen present on red cells.

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'A' Gene Inheritance

If both parents pass on the 'A' gene creating Homozygous AA, or if one parent is A and one is O, creating Heterozygous AO.

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Dominant Gene 'A'

A gene that leads to antigen expression, resulting in more A antigens in individuals with two dominant genes compared to those with only one.

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Punnett Square

Illustrates the probability of genotypes resulting from the parents' genotypes.

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Specific Loci

A location on a chromosome that houses specific genes, influencing traits.

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Allele Variation

Different versions of a gene at a specific locus, such as A, B, or O for ABO blood groups.

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Null Gene

A gene with no detectable product, resulting from inheritance of amorphic genes from both parents or action of suppressor genes.

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Suppressor Genes

Genes that prevent other genes from being expressed.

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Polymorphic Genes

Condition where more than one allele exists at a particular locus on a chromosome, exemplified by HLA genes.

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Independent Segregation

Each parent passes one allele of a gene pair, determining specific traits in the offspring, such as blood type.

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Independent Assortment

Blood group antigens from different chromosomes are inherited and expressed separately, without interference.

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Blood Group Systems

36 registered blood group systems, each defined by a unique ISBT gene name and number.

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ISBT Definition

An organization that standardizes terminologies for red cell antigens since 1980.

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ISBT's Goal

To standardize terminologies and facilitate computer software compatibility using: Gene Name + ISBT number.

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Red Cell Proteins Location

Embedded in the red cell membrane, with portions extending into the external surface and cytoplasm.

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RBC Membrane Proteins

Band III, Glycophorin A, Glycophorin B, Glycolipids, and Polypeptides.

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Blood Group Antigens

Presence depends on inherited genes, influencing their form, size, and length.

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Glycophorins definition

Tallest proteins on red cells, carrying MNS blood group antigens, with ISBT number 002.

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Forward vs. Reverse Typing

Front typing determines antigens by using antisera; back typing determines antibodies using known red cells.

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Forward Typing Purpose

Used to determine antigens on red cells with reagents containing specific antibodies.

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Reverse Typing Purpose

Determines antibodies in patient plasma/serum, using known red cells.

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Landsteiner's Law

Normal individuals possess ABO antibodies to antigens absent from their red cells.

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Self-Tolerance in ABO

You cannot produce antibodies against your own red cell antigens.

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Antibodies by Blood Type

Individuals with Type A blood possess anti-B antibodies; Type B possess anti-A; Group O possesses both Anti-A and Anti-B.

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Blood Type Prevalence

The most common blood group is O, then A, B, and AB; Filipinos mirror the US in Rh distribution.

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ABO Gene Inheritance

Individuals inherit one ABO gene from each parent determining which ABO antigens are expressed.

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Expression Triad

Interaction of ABO, Hh, & Se; dictates expresssion/formation of ABO antigens.

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Glycosyltransferases Role

Transfer sugar molecules to paragloboside to create specific ABO antigens.

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Paragloboside

Oligosaccharide chain attached to a lipid or protein: precursor of ABO antigens

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H antigen definition

An antigen found only in Bombay phenotype, tied to H gene inheritance in chromosome 19. It means you do not have A, B or H antigens.

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Forward Typing

Involves using anti-sera for antigen detection on red cells.

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Reverse Typing

Determines antibodies in serum with known RBCs.

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Landsteiner's Rule

Karl Landsteiner that states individuals form antibodies against antigens they lack.

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Glycosyltransferases

A or B glycosyltransferases transfer sugars to create antigens.

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O Blood Type

The ABO phenotype with the most unreacted H antigen.

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A Subgroups

Causes discrepancies in forward and reverse ABO typing.

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Anti-A1 Specificity

Recognized by plant lectin Dolichos biflorus.

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Weak A Subgroups

Weak or absent agglutination with Anti-A/B reagents.

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Weak A ID

Saliva studies test for H and A antigens.

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Bombay Phenotype

A rare phenotype lacking A, B, and H antigens.

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Lectins

Specific antibodies derived from plants: Helps ID small Ag amounts.

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ABO Discrepancies

Problems in ABO typing when forward and reverse typing results disagree.

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Discrepancy Observations

Weakened agglutination, missing expected reactions, or extra reactions.

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Causes of Discrepancies

Technical errors, reagent issues, or patient-related conditions.

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Technical Errors

Identification and documentation errors in the lab.

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Group I Discrepancies

Unexpected serum reactions in reverse typing due to weak or missing antibodies.

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Conditions: Weak Antibodies

May include newborns, elderly, or immunocompromised patients.

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Group II Discrepancies

Unexpected reactions in forward typing due to weak or extra antigens.

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Chimerism

Rare condition with two cell populations in one individual.

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Group III Discrepancies

Plasma or protein abnormalities causing red cell aggregation.

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Group IV Discrepancies

Problems in both forward and reverse typing, with cold autoagglutinins.

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Study Notes

Gene

  • A unit of inheritance which directs the production of a specific protein, a main component of the human body.
  • Responsible for protein production via transcription of codons into amino acids which form tissues, organs, and organ systems.
  • Cells, particularly the nucleus, contain chromosomes where genes are located.
  • Chromosomes contain DNA, and DNA houses the genes.

Alleles and Genotypes

  • The 'A' gene is responsible for the A antigen.
  • A person receives one gene from each parent.
  • Homozygous AA means both parents passed on the A gene.
  • Heterozygous AO means one parent gave an A, and the other gave an O.
  • Phenotype is the outward expression of genes (e.g., antigen on a red cell).
  • Genes from parents code for a particular antigen, such as the A antigen.
  • Individuals can have the same phenotype but different genotypes (one homozygous, one heterozygous).
  • The A gene is dominant, leading to A antigen expression.
  • Two dominant genes mean more A antigens are present compared to a heterozygous A gene.
  • Even with heterozygosity, antigens are still expressed due to dominance.
  • Genotype is responsible for gene expression.

Phenotype vs Genotype

  • Blood type B: Phenotype is B (antigens present on the red cell), Genotype is Homozygous BB or Heterozygous BO

Punnet Squares

  • Visualize genotype probabilities from known parental genotypes.
  • Illustrative Example:
    • Parent 1 is Homozygous O
    • Parent 2 is AB (both dominant
    • Combine both genes

Genes, Alleles, and Polymorphism

  • Genes are located at specific loci on chromosomes.
  • Chromosome 9 houses A and B genes.
  • The ABO gene has three different forms: A gene, B gene, O gene.
  • Alleles are variations within a particular gene.
  • A chromosome possesses multiple loci, but not all loci may have the ABO gene.
    • A specific gene occupies 1 locus.
  • Chromosome 1 houses the Rh gene.
  • Chromosome 17 houses the Diego gene.
  • Alleles exist for each locus.
  • Allelic genes: Antithetical.
  • At any particular locus, only one form of the gene can be present.
    • The ABO gene comes in three forms, though only one allele can occupy a given locus.
    • It is not possible to have more than one allele at a loci.
  • Some blood groups can contain more than one allele at a loci.
    • Rh blood group has 5 different alleles D, C, c, E, e
    • A combination of these alleles can be present, but only 3.
  • Polymorphic Genes: if more than 1 allele is contained in a locus on a particular chromosome
    • Example: HLA (Human leukocyte antigen)
    • Important in organ transplant (tissue typing)

Inheritance Patterns

  • Blood group antigens are inherited following the following patterns
    • CODOMINANT
      • Both genes inherited are dominant, both expressed
    • DOMINANT
      • Dominant allele paired with recessive, product of dominant is expressed
    • RECESSIVE
      • Expressed only if inherited homozygous

Silent, Amorph, Null Genes

  • No detectable product.
  • Causes
  • Amorphic gene inherited from both parents
  • Even if you have inherited the Dominant gene, Action of suppressor genes
  • Example: Lua/Lub - both genes are dominant
  • Inherited the suppressor gene In(Lu) → suppressor of Lutheran
  • The product of these genes will not be expressed regardless of a dominant gene due to the suppressor gene

Mendelian Principles

  • Independent Segregation: each parent has a gene pair for a trait which is transmitted Punnett square illustrates laws of segregation

  • Independent Assortment: blood group antigens inherited from different chromosomes are expressed separately. no interference occurs. applicable to studying blood group antigens.

Dosage Effect

  • Dosage effect is proportional to the number of antigens present on the red blood cells and important for serological idenfication

Linkage and Crossover

  • Linked Genes: loci house genes with close proximity and are inherited as a unit ex: exMNSS

  • Haplotype: genetic combo from linked genes ex: MS, Ms, NS, Ns

  • Linkage Disequilibrium:* in The Philippines, Rh+ is 99% and Rh- is 1% based a consensus, in communities, there thorough computations, but because of links w/ MS (ex example), there are predicted number of persons w/ haps and linked genes increase.

Crossing Over: Cell division- exchange of genetic material from sister chromatids

Population Genetics

  • Combined Phenotypic calculations:* Determines the frequency of a particular phenotype of a population, to find the donor unit of RBCs with certain antigen characteristics It provide estimate number of units tested determine units desired antigens

Relationship testing (Paternity testing (Screening Test))

  • Direct exclusion*
  • Indirect exclusion-Obligatory Gene*

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