Intrinsic Normocytic Anemia Flashcards
There are 3 defects in intrinsic Normocytic Anemia, what are they?
RBC membrane defect
RBC enzyme defect
Hb defect
RBC membrane defects are?
Hereditary Spherocytosis
Paroxysmal Nocturnal Dyspnea
Pathogenesis of Hereditary Spherocytosis?
Defect in proteins (ankyrin, band 3, protein 4.2, spectrin) interacting with RBC membrane and Plasma membrane
=>Round RBCs w/no central pallor
Findings Suggestive of Hereditary Spherocytosis?
Increased MCHC and RDW
Two Consequences of Spherocytosis?
Hypertrophic Splenomegaly and aplastic crisis with Parvovirus B19
Labs of Spherocytosis?
+ Osmotic fragility test=>Not resistant to hypotonic solution
Paroxysmal Nocturnal Hemogobinuria (PNH) Pathogenesis? What do these proteins normally do?
Pathogensis: *Acquired mutation (occurs later in life) in Impaired synthesis of GPI (DAF and MIRL)
GPI=>kills complement
Consequence of PNH?
Increased complement mediated RBC lysis
PNH Triad?
Hemolytic anemia, pancytopenia and venous thrombosis
Why does it only happen at night?
At night, shallow breathing=> Increased CO2 retained=>resp acidosis=> complement activated
PNH Labs? Tx?
CD55/59 RBCs on flow cytometry
Eculizumab
Complication of PNH?
Increased incidence of acute leukemia
Most common enzymatic disorder of RBCs?
G6PD def
G6PD def. genetics?
X-Linked
G6PD def MOA?
Decreased glutathione and increased RBC stress
G6PD def hemolytic anemia following stress oxidants like?
Sulfa drugs, antimalarials, infections, fava beans
G6PD def what cells do you get?
Bite Cells
Pyruvate def. genetics?
AR
Pyruvate def. MOA?
Decreased ATP
HbC mnemonic?
HbC has LyCine and Hb Crystals
Sickle Cell anemia MOA?
HbS point mutation=> single amino acid replacement in β chain (substitution of glutamic acid with valine)
Sickle cell anemia is seen in?
Low O2 states
In Low O2 states, anemic patients sickle. What does that mean?
Deoxygenated HbS polymerizes
Newborns are protected from Sickling because they have increased?
HbF
Therefore Tx for Sickle cell is?
Hydroxyurea (increased HbF)
Sickle cell anemia x-ray?
Crew cut on skull-x-ray due to marrow expansion
Sickle cell trait are asym because they have HBs
50%
Renal Medulla
Complication of Sickle Cell Disease? MCC of death?
- Increased risk of infection by encapsulated organisms (SHiNE SKis)=>MCC of death
- Salmonella osteomyeltitis
- AA infant will have dactylitis (painful swelling)
