HEME ONC 1 REDS Flashcards
This is the most common porphyria ________ and this enzyme is defective ___________
Porphyria cutanea tarda; uroporphyrinogen decarboxylase
What enzymes are affected by lead poisoning and what substrates accumulate?
Ferrochetalase and delta-ALA dehydratase; protoporphyrin and delta ALA
Macrophages are activated by this cytokine _________ and are identified by this cluster of differentiation marker_____________
IFN-gamma; CD14
What is defective in Bernard Soulier syndrome?
GpIb on the platelet, which binds to vWF on the damaged endothelium
Which RBC transporter allows them to to sequester HCO3?
HCO3/Cl antiporter, also responsible for chloride shift
Which disease involves an absence of GpIb? What process is affected?
Bernard-Soulier Syndrome (big suckers)? Platelet adhesion to vWF is affected
Name 3 causes of megaloblastic anemia
B12 deficiency, folate deficiency, orotic aciduria
What are the NAACP causes of eosinophilia?
Neoplasia, Asthma, Allergies, Collagen Vascular Disease, Parasites
With which disease are macro-ovalocytes associated?
Megaloblastic anemia (along with hypersegmented polys) and marrow failure
What is defective in thrombotic thrombocytopenic purpura?
ADAMTS-13 a vWF metalloprotease; since vWF multimers not broken down, leads to excessive binding up of platelets causing obstruction in the vessel = microangiopathic hemolytic anemia
What is defective in Glanzmann’s thrombasthenia?
Defective GpIIb/IIIa leading to defective aggregation
Which proteins are defective in hereditary spherocytosis? Why is there anemia? What is the Tx?
Spectrin, ankyrin, band 3, and protein 4.2; there is anemia because the defective shape leads to early removal by the spleen; tx = splenectomy
Multiple myeloma is the most common primary tumor of this tissue_________ and is composed of these cells ___________
bone; plasma cells
Define poikilocytosis
varying shapes of blood cells
Where do prothrombin gene mutations occur?
3’ UTR, leads to venous thrombosis
What are 3-4 disease processes that you may see schistocytes in?
DIC, TTP (thrombotic thrombocytopenic purpura, ADAMTS-13), HUS (hemolytic uremic syndrome, shiga-like toxin), mechanical heart valves and aortic stenosis
Note: TTP involves this d/t shearing across the platelet aggregates, ITP on the other hand is actually an extravascular hemolysis occuring in the spleen
Where is the location of a large amount of the platelet pool?
the spleen… 1/3 of platelets are stored in the spleen
Differentiate the signs of a platelet disorder vs. a coagulation disorder
platelet disorders present with petechiae and mucosal bleeding whereas coagulation disorders present with deep bleeding into joints
What cellular inclusions are you likely to see in sickle cell patients and why?
Howell-Jolly bodies because these are nuclear remnants that are normally removed by the spleen but in Sickle Cell they get autosplenectomy
What disease does ecluzimab treat?
paroxysmal nocturnal hemoglobinuria
Who are the cis and trans deletions of alpha thalassemia the most common in?
cis = Asian; trans = African
Name the WBC differential form highest cell concentration to the lowest cell concentration
Neutrophil, Lymphocyte, Monocyte, Eosinophil, Basophil
Liver disease and abetalipoproteinemia can lead to this spiny looking RBC
acanthocyte (spur cell)–deposition of cholesterol into the plasma membrane
Describe the 1,2,3, and 4 gene deletions of the alpha thalassemias
1-2 have little significance, 3 gene deletion leads to HbH disease in which you actually get a beta-tetramer (= HbH), and the 4 gene deletion results in gamma tetramers i.e. hemoglobin barts = hydrops fetalis
What is the risk of administering warfarin in a person with protein C/S deficiency?
Thrombotic skin necrosis with hemorrhage, this is because factors V and VIII are inactivated by proteins C and S so there will be hypercoagulability in these patients
What are the clinical uses for giving cryoprecipitate?
treating coagulation factor deficiencies involving fibrinogen and factor VIII
Which 2 enzymes are inhibited in lead poisoning? What is a major risk factor?
heme synthesis proteins = ferrochetalase and ALA dehydratase; homes with chipped paint
Name 4 causes of renal papillary necrosis
Sickle cell disease, Obstructive pyelonephritis, DM, and Analgesics (SODA mneomonic)
What is the clinical use for administering packed RBC’s? (2)
Acute blood loss or severe anemia
Which disease is associated strongly with dacryocytes?
myelofibrosis (teardrop cells) causes a myelophthisic anemia by forcing the RBC’s out of the fibrous marrow
How are the actions of ticlopidine/clopidogrel similar and different from abciximab?
All ultimately end up blocking platelet aggregation via messing with GpIIb/IIIa; however clopidogrel/ticlopidine inhibit the ADP receptor so that GpIIb/IIIa cannot be expressed whereas abciximab binds directly to GpIIb/IIIa
What is the triad of paroxysmal nocturnal hemoglobinuria?
hemolytic anemia, pancytopenia, venous thrombosis
Why is there anemia in chronic disease (i.e. anemia of chronic disease)?
Because the chronic inflammation leads to an increase in the release of hepcidin from the liver which binds ferroportin on intestines thus inhibiting the uptake of iron. It also does this on macrophages which decreases the TIBC
Evolutionarily, this may be to keep iron away from bugs.
Which 4-5 anemias are microcytic, hypochromic?
IRON DEFICIENCY ANEIMA (MOST COMMON BY FAR)? Alpha thalassemia, beta thalassemia, sideroblastic anemia, and Lead poisoning (which causes sideroblastic anemia)
When present in the skin, these cells are called Langerhans cells
dendritic cells
