Vocab + RBC path Flashcards
Term for: red cells of varying sizes.
Anisocytosis
Term for: red cells of varying shapes
Poikilocytosis
Term for: Too many RBCs
Polycythemia or Erythrocytosis
Term for: immature red cells
Reticulocytes
Associations: basophilic stippling
Disease…
Lead poisoning (most important), thalassemias, anemia of chronic disease, or alcohol use.
Associations with Burr cells… echinocyte cells… cell with spikes
End stage renal disease, pyruvate kinase deficiency, liver disease
Associations: Acanthocyte… abnormal spikes (aka spur cells)
Seen in liver disease and a-beta-lipoproteinemia.
Associations: spherocytes…
Familial hereditary spherocytosis - loss in biconcave shape
What are schistocytes plus its association…
Fragmented RBC that have been chopped up. Cells that passed through a fibrin mesh, or prosthetic valves, and is fragmented
What causes Target cells?
THAL Thalassemia Hemoglobin C disease (HbC) Asplenia Liver Disease
Disease seen with: Howell-Jolly bodies and what is it…
It is a basophilic remnant of a nucleus of a red cell (usually removed by splenic macrophages), seen in functional hyposplenia or asplenic patients
How and what are bite cells + Heinz bodies?
Seen in patients with excessive oxidation of Hb (precipitated). Splenic macrophages take a bite (degmacytes) out of cells. Seen in G6PD deficiency.
Dacrocyte (Tear drop cell) seen in???
Myelofibrosis
Looks like a tear because it’s mechanically squeezed out of its home in the bone marrow.
Bone marrow is fibrotic
Elliptocytes aka pencil cells or cigar shaped cells are seen in???
Hereditary elliptocytosis
What is the rate limiting enzyme of heme synthesis? Where does this come from?
Aminolevulinic acid synthase
Glycine + succinyl-CoA make aminolevulinic acid–> B6 required
What causes Acute Intermittent Porphyria ?
A deficiency of Uroporphyrinogen-1-synthase
AKA- Porphobilinogen deaminase
CF: acute abdomen and acute psychosis
Porphyria cutanea tarda has a deficiency of what enzyme?
Uroporphyrinogen decarboxylase
What type of anemia gives hupersegmented neutrophils and neurological dysfunction?
Megaloblastic anemia -B12
W/out neurological symptoms: B9
What type of anemia presents with bone marrow filled with adipocytes?
Aplastic anemia
What test can be used to diagnose Beta thalassemia minor?
Hemoglobin electrophoresis
What subtype of anemia is being described (microcytic)?
- Decreased serum iron
- increased TIBC
- Decreased ferritin
Iron deficiency anemia
What subtype of anemia is being described (microcytic)? -Normal serum iron -Normal TIBC -Normal ferritin Target cells
Thalassemia
What type of anemia is being presented- Microcytic anemia, swallowing difficulties (Dysphagia), esophageal webs, and possibly glossitis?
Plummer-Vinson syndrome
Glossitis due to anemia, not PV syndrome
Microcytic anemia with >3.5% hemoglobin A2 is what subtype?
Beta-thalassemia
What Microcytic anemia can be reversible with B6 supplements?
Sideroblastic anemia
HIV patient with megaloblastic anemia? What’s the cause?
Zidovudine
A Patient presents with normocytic anemia with elevated creatinine, what do the labs and DX likely reflect?
Chronic kidney disease resulting in low EPO levels
What are the causes of aplastic anemia?
Radiation
Benzene
Chloramphenicol
Cancer drugs
Anti-metabolites
Viruses: EBV, and parvo B19
Fanconi Anemia
Patient presents with skull x-ray that shows “hair-on-end” appearance. What disease is at hand?
Marrow hyperplasia- from either beta-thalassemia OR sickle cell disease.
This is due to increased lysis causing the anemia, the marrow in the skull is trying to make up for the elimination.
What is the Philadelphia chromosome?
Translocation of (9;22)
Creates mutation bcr-abl
What medication targets the Philadelphia chromosome, and what disease is most associated?
Drug: Imatinib
Seen in CML
(Philadelphia CreaML cheese)
What are the two causes that make up Hereditary Spherocytosis, and what do they do?
Ankyrin and spectrin (gives the cell it’s biconcave shape), this looks more spherical.
What test is administered to diagnose Hereditary Spherocytosis?
Osmotic fragility test- high percentage of lysis due to spectrum isn’t there to keep the cell intact.
TX- splenectomy (which will cause the presence of Howell-Jolly bodies (nuclear remnants of cells that were supposed to be removed by the spleen)).
What is the cause of Paroxysmal nocturnal hemoglobinuria?
Red cells are missing the surface markers CD55 and CD59. Complement attacks them and lyses red cells.
What is the cause of Sickle Cell disease?
Hemoglobin S mutation is a single amino acid replacement, where Valine is used instead of Glutamic acid in position 6.
What is Hemoglobin C disease?
Point mutation on the Beta-globin gene. Lysine is substituted for glutamic acid –> causes hexagonal crystals in the cell.
What is the difference between Hemoglobin S, to Hemoglobin C?
Mutation of glutamic acid to valine on position 6 in HbS, while HbC has the mutation of glutamic acid to lysine also at position 6.
What is the treatment for sickle cell disease?
Hydroxyurea and or bone marrow transplantation
What test checks for bleeding time on Px with Hemophilia A and von Willebrand disease?
PTT
Hemosiderinuria and thrombosis
Paroxysmal nocturnal Hemoglobinuria (PNH)
Eczema, recurrent infections, and thrombocytopenia… what disease is at hand?
Wiscott-Alderich Syndrome
Clinical case: A patient presents with port wine colored urine, abdominal pain, polyneuropathy (psych disturbances), can be triggered/precipitated by drugs (barbiturates, seizure drugs, rifampin, and metoclopramide). What disease is at hand?
Acute intermittent porphyria
Deficient enzyme: porphobilinogen deaminase
Tx- give glucose and heme which will downregulate ALA synthase.
Clinical case: patient has blistering skin, tea-colored urine, hypertrichosis, and skin pigmentation in sun exposed areas. Associated with Hepatitis C, and increased AST and ALT. What is the diagnosis and the deficient enzyme?
Dx: Porphyria Cutanea Tarda
Deficient enzyme: Uroporphyrinogen decarboxylase
The following pathologies are associated with what disease?? Pulmonary disease Cyanotic heart Disease Inappropriate elevations of EPO Monoclonal proliferation of red cells And malignancies of increased EPO
Polycythemia Vera
60% of children with trisomy 21 present with it at birth
What are the 4 tumors that can cause Polycythemia Vera?
“Potentially Really High Hematocrit”
Pheochromocytoma
Renal Cell Carcinoma
Hepatocellular Carcinoma
Hemangioblastoma
