Genetic etiology, epidemiology, clinical presentation, blah blah blah
Pathophysiology/ Pathogenesis
Diagnostic tests
Structures
Management +1 fun fact
100
Etiology of sickle cell disease
What is a point mutation in the 6th codon of the beta globulin chain exchanging glutamate for valine
bonus: what nucleotide is exchanged for what?
bonus bonus: how does this mutation cause disease?
100
The form of hemoglobin formed secondary to the mutation
What is hemoglobin S
100
diagnostic tests used in sickle cell (5)
what are hemoglobin electrophoresis, chest x-ray, CBC with differential, peripheral blood smear, blood cultures
100
This structure is microscopic and has the shape of a flat disk or doughnut, which is round with an indentation in the center, but it isn't hollow
What is an erythrocyte
100
Additional things you may need to document for a sickle cell patient
What is hydroxyurea dosage, last pain crisis, hospital/pain crisis plan, last immunizations
200
Population is sickle cell disease most commonly found
What are African populations
also acceptable: Who are Hispanic-Americans from Central and South America, People of Middle Eastern, Asian, Indian, and Mediterranean descent.
200
Three pathophysical mechanisms that cause the clinical presentation of sickle cell
What is polymerization of HbS, vaso-occlusive phenomena, and endothelial dysfunction mediated by hemolysis
200
common differential diagnosis of sickle cell disease
What is HbSC disease. (or SS)
A milder sickling disorder. In the HbC mutation, lysine replaces glutamic acid in position 6 on the beta chain. HbA is not present. The RBCs contain 50% HbS and 50% HbC. Anemia is much milder, with Hb levels of 11 g/dL or higher.
Symptoms of HbSC disease are similar to SCD but less frequent and less severe. Splenomegaly often persists well into adult life
200
This structure is stiff and sticky. When they lose their oxygen, they form into the shape of a sickle or crescent, like the letter C.
What is a "sickled cell".
200
Prevents adherence to medication/ treatment
what are hydroxyurea side effects
300
3 (of many) Classic manifestations of sickle cell disease
what are dactylitis, pain crisis, avascular necrosis, splenic failure (howell jolly bodies), splenic sequestration crisis, acute chest syndrome, renal dysfunction, papillary necrosis
bonus: do these symptoms change in adult sickle cell?
300
This hemoglobin has a lower affinity for oxygen than HbA
What is HbS
300
The probable cause of a high reticulocyte count
What is an aplastic crisis
300
The erythrocyte lacks these structures which makes it difficult for RBCs to produce proteins, divide, or survive when glucose is low
Organelles (mitochondria, ribosomes, nucleus)
300
people with this genotype are more at risk for renal medullary carcinoma
who are people with sickle cell trait
400
Inheritance pattern of sickle cell anemia
what is autosomal recessive
bonus: what are the chances that a person with Sickle Cell Disease passes it on to their offspring? Sickle Cell trait?
400
Consequence of blockage venous outflow from the spleen secondary to vaso-occlusion
What is splenic sequestration
(blood pools in spleen --> splenomegaly & hypotension)
400
This is how a hemoglobin electrophoresis would look for a person with confirmed Sickle Cell Disease
what is increase Hemoglobin S
400
terms that describe unequal red blood cell, increase in abnormal red blood cells of any shape (that makes up to 10% or more of the total population), more staining than normal with certain dyes.
what are anisocytosis, poikilocytosis, and polychromatophilia
400
Significance of IV fluids, 100% oxygen, packed RBCs, and daily reticulocyte counts
- fluids: slow or stop the sickling process by increasing the plasma volume, thereby decreasing blood viscosity and indirectly reducing red cellular dehydration as well as the intracellular concentration of Hemoglobin S.
- oxygen: Oxygen therapy may prevent the vaso-occlusion and disruption of tissue oxygenation that often lead to painful sickle cell disease crises
- packed RBCs: help lessen anemia and reduce the blood's viscosity, allowing it to flow more freely and ease disease symptoms and prevent complications.
- The reticulocyte count is a test for determining bone marrow function and evaluating erythropoietic activity.
500
A person with Sickle Cell trait may have increased protection against this disease
What is Malaria
500
Consequence of increased marrow erythropoiesis to compensate for hemolysis and RBC precursors being released into the blood
What is reticulocytosis
500
You are an attending who suspects SCD in an infant. You ask your OMS IV to draw labs. What labs would you order and what would you expect your lab values to be? (6 values total)
what would be decreased hematocrit, hemoglobin, RBC, and platelets, and increased RDW and reticulocyte counts
lets discuss why :-)
bonus: untreated sickle cell could lead to elevation of what other lab value?
500
consequence of sickled shaped RBCs
what is decreased blood flow (vaso-occlusion) and decrease oxygen carrying capacity
lets discuss!
500
bonus: MOA of hydroxyurea
raises the amount of fetal hemoglobin