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39 Cards in this Set

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Hemophilia A (classic hemophilia)
-Factor VIII Defect
-X-linked, Recessive
-1 in 10,000 males
Hemophilia B (Christmas Disease)
-Factor IX Defect
-X-linked
-1 in 50,000 males
von Willebrand Disease
-von Willebrand Factor Disease
-Not X-linked
-1 in 1,000,000
-Looks like Factor VIII Deficiency (since vWF binds VIII in tenase)
Antithrombin Deficiency
-Autosomal dominant trait
-2 to 5 in 10,000
-increased risk of arterial & venous thrombic disease
Coagulants
-includes Factor VIIa, Factor VIII, & Factor IX
-various factors can be administered to treat hemophilia
-factor VIIa does not activate factor IX in the absence of tissue factor (therefore factor X can't be activated)
-therefore, factor VIIa can be added to blood without initiating the molecular response
Coumarin Drugs
-anticoagulant
-aka warfarin (coumadin)
-Vitamin K competitors
Heparin
-anticoagulant
-interacts with & activates antithrombin
t-PA
-anticoagulant
-activates plasmin to initiate fibrinolysis
-reduces thrombolysis in early treatment of myocardial infarction
Aspirin
-anticoagulant
-reduces platelet production of thromboxane A2 by inhibiting cyclooxygenases
Plavix
-anticoagulant
-irreversible inhibitor of ADP receptors on platelet membrane
ReoPro, Intergrilin, & Aggrastat
-anticoagulants
-inhibit platelet aggregation by blocking GPIIb-GPIIIa receptor
-these inhibitors are reminiscent of Glanzmann Thrombasthenia --> a rare disease caused by a lack of this receptor
Platelet Count
-important screening test in evaluating bleeding problems
-Bleeding problems observed when count is < 100,000uL
-Become severe when count < 50,000uL
Activated Partial Thromboplastin Time (APTT)
-test competence of intrinsic pathway after addition of exogenous Ca2+ and a partial thromboplastin (cephalin, kaolin, celite, powdered glass)
-time is prolonged with deficiency in any of the factors in intrinsic pathway or common pathway
Thromboplastin Time (PT)
-tests function of extrinsic pathway by measuring clotting time after addition of a complete thromboplastin (ex. tissue factor) and exogenous Ca2+
-Prothrombin time is prolonged if there is a deficiency in Extrinsic Pathway or Common Pathway
Thrombin Time (TT)
-tests fibrinogen level & function by measuring the clotting time after addition of thrombin
Bleeding Time (BT)
-time between infliction of a small standardized cut and the moment it stops bleeding
-rarely used anymore, difficult to standardize
Blood Groups
-Inherited antigens on the surface of RBCs
-Important in transfusion
-Important in hemolytic disease of newborns
-ABO & Rh antigens are most important (although there are many)
Antigen
-sugar molecules on surface of RBCs
-H antigens used in assembly of these antigens on cell surface
-gene is an enzyme that allows one to add one sugar molecule at a time
Blood Antibodies
-if you lack A antigen, you produce anti-A antibodies
-if you lack B antigen, you produce anti-B antibodies
-These arise spontaneously (does not require exposure to make/have antibodies)
-Usually IgM and IgG antibodies
Blood Allele Frequencies
-polymorphic locus --> each allele maintained at greater than 1% in gene pool
-frequency of phenotypes varies in different populations
What are antigens?
-glycoproteins & glycolipids
-located on RBC membranes
-in most tissues (excpet CT, CNS, & some epithelia)
-found in body fluids in 80% of people --> called secretors
Secretors
-secrete ABO antigens in body fluids
-80% of people are secretors
-controlled by a pair of alleles
-SeSe & Sese are secretors
-sese are non-secretors
Non-secretors
-both secretors & non-secretors have glycoproteins in their body fluids
-non-secretors just don't have A, B, or H specificities in their body fluids
Chemistry of ABO
-antigenic specificity determined by terminal monosaccharides on oligosaccharide chain
H gene
-codes for enzyme (alpha-L-fucosyltransferase), which adds fucose to the terminal galactose of the precursoroligosaccharide to produce H antigen
A allele
-codes for enzyme alpha-N-acetly-galactosaminyltransferase, which adds N-acetyl-D-galactosamine to the H antigen
B allele
-codes for enzyme alpha-D-galactosyltransferase, which adds D-galactose to the H antigen
Persons with both A & B alleles
-produce both enzymes
-some H antigen converted to A antigen & some is converted to B antigen
O allele
-does not code for a functional enzyme
-people with OO --> have H antigen
-people with AO or BO have A & H antigen or B & H antigen
-nobody has anti-H antibodies
In the case of glycolipids, the oligosaccharide chain that carries A, B, and/or H antigenic specificity is attached to...
the primary hydroxyl groups of sphingosine
Bombay Phenotype
-Extremely Rare
-Genotype hh
-H gene is defective
-No H antigen produced
-Therefore A & B have no effect since there is no H subtance for A & B genes to act upon
Rh Blood Group (general)
~85% of US population is positive for Rh anitgen (but genotype frequencies are variable among different populations)
-Rh antigen is part of membrane protein in RBCs
Rh Proteins
-expected to have 12 or 13 transmembrane helical domains
-3 Cys palmitoylation sites
-D differs from Ce by 35 amino acids
Weak D
-variant of Rh protein
-produces D antigen at less than normal levels
-may be incorrectly classified as Rh negative in blood typing
Rh null mutation
-mutation in which D & CcEe proteins are absent
-these people either lack the DCE gene or have an abnormal regulator of it
Rh Blood Group
-unlike ABO, antigen is a protein
-unlike ABO, antibodies do not occur until exposure of an Rh-negative person to the D antigen in Rh-positive blood
-exposure occurs via transfusion or during pregnancy (after exposure to fetal blood)
Hemolytic Disease of the Newborn (HDN)
-when mother is Rh-negative & fetus is Rh-positive
-mother produces antibodies that attack fetal RBCs, causing them to have a shortened lifespan
-HDN can occur because of Rh incompatability between mother & fetus, ABO incompatability (mother O, fetus A or B), or an incompatability with other blood group systems like Kell or Duffy (very rare)
-fetus will have Erythroblastosis Fetalis
Maternal Antigens
-in ABO systems, maternal pre-existing antibodies are usually IgM and don't cross placenta
-Rh antigens are often IgG & are able to cross placenta
Erythroblastosis Fetalis
-anemia developed due to incompatability between maternal fetal blood types during pregnancy
-mother's anitbodies attack fetal RBCs
-Newborn child will be jaundice due to rapid destruction of RBCs --> increased bilirubin
-hyperbilirubinemia must be treated to prevent kernicterus (unconjugated bilirubin in brain --> causes brain damage)