Hematology/Oncology Flashcards
In which hemolytic disease we see Heinz bodies and bite cells?
G6PD deficiency
What are Heinz bodies?
These are oxidized or precipitated hemoglobin.
What is the role of G6PD?
G6PD is an enzyme that generates NADPH. NADPH is a cofactor for production of Glutathione. Without Glutathione, oxidative metabolites accumulate in the erythrocytes and precipitate DNA into Heinz bodies.
Why G6PD activity level can be normal during the acute hemolytic crises in a G6PD deficient patient?
During the acute hemolytic crises, the newer erythrocytes will have disproportionately higher activity of G6PD as compared to older erythrocytes.
What type of hemolytic anemia is associated with Chronic Lymphocytic leukaemia (CLL)?
Extravascular autoimmune hemolytic anemia due to IgG (Warm agglutinin) antibodies.
What is Hereditary Hemorrhagic Telangiectasis?
Osler-Weber-Rendu syndrome characterized by diffuse telangiectasias, recurrent epistaxis, and widespread AV malformations.
Lung hemorrhagic AV malformations can result in hypoxemia resulting in reactive polycythemia.
What are the important clinical sxs of paroxysmal nocturnal hemoglobinuria?
it is an autoimmune intravascular and extravascular hemolytic anemia due to abscess of CD 55 and CD59 proteins resulting in complement activation of WBCs.
SXS are hemolysis, cytopenia, and venous thrombosis due to hypercoagulability.
Is coombs test positive or negative for Autoimmune hemolytic anemia?
Positive
Is Coombs test positive or negative in hereditary spherocytosis?
It is negative
What are the causes of intravascular hemolysis? What does lab show?
MAHA, transfusion reactions, infections, PNH, IV Rho(D) immunoglobin infusion.
Decreased haptoglobin, Increased (LDH, Indirect bilirubin)
What are the causes of extravascular hemolysis? What does lab show?
Intrinsic RBC enzyme deficiencies (eg G6PD), Hemoglobinopathies (eg SCD, Thalassemia), Membrane defects (eg hereditary spherocytosis), warm or cold agglutinins anemias, infections
Mild decreased or normal Haptoglibin, Increased indirect bilirubin, Mildly increased LDH
What does Hb electrophoresis for beta thal minor shows?
increase in hemoglobin A2
What is the pentad of thrombotic thrombocytopenic purpura?
Microangiopathic hemolytic anemia, thrombocytopenic purpura, Neurologic complications (headaches, seizures), renal disease, Fever
What enzyme is deficient in TTP?
ADMATS13 - an enzyme that cleaves large mutimers of vWFs
What is S1Q3T3 sign on ECG?
It is McGinn-White sign indicating right heart strain.
It is seen in PE.
Which is the drug of choice for post-polycythemia vera myelofibrosis?
Ruxolitinib, the Janus kinase inhibitor
What needs to be avoided in TTP?
Plasma transfusion needs to be avoided because it can contribute to formation of platelet thrombi.
What would normalize first after starting plasmapharesis for TTP?
Neurologic deficits
What is the treatment for transfusion related hemosiderosis?
Treatment is with iron chelators such as deferoxamine.
Physical examination will show grey skin and lung crepitation.
What is Budd-Chiari syndrome?
It is due to hepatic venous outflow obstruction that could be caused by myeloproliferative disorder (P vera), Malignancy (hepatacellular cancer), oral contraception/pregnancy.
Sxs are manifestation of hepatic vein obstruction. Liver injury (jaundice, LFTs), abdominal pain, ascites, venous pooling, varices
Diagnosis with abdominal doppler ultrasound. JAK2 mutation for P vera