Vocab + RBC path Flashcards

1
Q

Term for: red cells of varying sizes.

A

Anisocytosis

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2
Q

Term for: red cells of varying shapes

A

Poikilocytosis

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3
Q

Term for: Too many RBCs

A

Polycythemia or Erythrocytosis

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4
Q

Term for: immature red cells

A

Reticulocytes

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5
Q

Associations: basophilic stippling

Disease…

A

Lead poisoning (most important), thalassemias, anemia of chronic disease, or alcohol use.

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6
Q

Associations with Burr cells… echinocyte cells… cell with spikes

A

End stage renal disease, pyruvate kinase deficiency, liver disease

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7
Q

Associations: Acanthocyte… abnormal spikes (aka spur cells)

A

Seen in liver disease and a-beta-lipoproteinemia.

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8
Q

Associations: spherocytes…

A

Familial hereditary spherocytosis - loss in biconcave shape

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9
Q

What are schistocytes plus its association…

A

Fragmented RBC that have been chopped up. Cells that passed through a fibrin mesh, or prosthetic valves, and is fragmented

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10
Q

What causes Target cells?

A
THAL
Thalassemia 
Hemoglobin C disease (HbC)
Asplenia
Liver Disease
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11
Q

Disease seen with: Howell-Jolly bodies and what is it…

A

It is a basophilic remnant of a nucleus of a red cell (usually removed by splenic macrophages), seen in functional hyposplenia or asplenic patients

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12
Q

How and what are bite cells + Heinz bodies?

A

Seen in patients with excessive oxidation of Hb (precipitated). Splenic macrophages take a bite (degmacytes) out of cells. Seen in G6PD deficiency.

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13
Q

Dacrocyte (Tear drop cell) seen in???

A

Myelofibrosis

Looks like a tear because it’s mechanically squeezed out of its home in the bone marrow.

Bone marrow is fibrotic

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14
Q

Elliptocytes aka pencil cells or cigar shaped cells are seen in???

A

Hereditary elliptocytosis

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15
Q

What is the rate limiting enzyme of heme synthesis? Where does this come from?

A

Aminolevulinic acid synthase

Glycine + succinyl-CoA make aminolevulinic acid–> B6 required

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16
Q

What causes Acute Intermittent Porphyria ?

A

A deficiency of Uroporphyrinogen-1-synthase
AKA- Porphobilinogen deaminase

CF: acute abdomen and acute psychosis

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17
Q

Porphyria cutanea tarda has a deficiency of what enzyme?

A

Uroporphyrinogen decarboxylase

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18
Q

What type of anemia gives hupersegmented neutrophils and neurological dysfunction?

A

Megaloblastic anemia -B12

W/out neurological symptoms: B9

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19
Q

What type of anemia presents with bone marrow filled with adipocytes?

A

Aplastic anemia

20
Q

What test can be used to diagnose Beta thalassemia minor?

A

Hemoglobin electrophoresis

21
Q

What subtype of anemia is being described (microcytic)?

  • Decreased serum iron
  • increased TIBC
  • Decreased ferritin
A

Iron deficiency anemia

22
Q
What subtype of anemia is being described (microcytic)?
-Normal serum iron
-Normal TIBC
-Normal ferritin
Target cells
A

Thalassemia

23
Q

What type of anemia is being presented- Microcytic anemia, swallowing difficulties (Dysphagia), esophageal webs, and possibly glossitis?

A

Plummer-Vinson syndrome

Glossitis due to anemia, not PV syndrome

24
Q

Microcytic anemia with >3.5% hemoglobin A2 is what subtype?

A

Beta-thalassemia

25
Q

What Microcytic anemia can be reversible with B6 supplements?

A

Sideroblastic anemia

26
Q

HIV patient with megaloblastic anemia? What’s the cause?

A

Zidovudine

27
Q

A Patient presents with normocytic anemia with elevated creatinine, what do the labs and DX likely reflect?

A

Chronic kidney disease resulting in low EPO levels

28
Q

What are the causes of aplastic anemia?

A

Radiation
Benzene
Chloramphenicol
Cancer drugs
Anti-metabolites
Viruses: EBV, and parvo B19
Fanconi Anemia

29
Q

Patient presents with skull x-ray that shows “hair-on-end” appearance. What disease is at hand?

A

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.

30
Q

What is the Philadelphia chromosome?

A

Translocation of (9;22)
Creates mutation bcr-abl

31
Q

What medication targets the Philadelphia chromosome, and what disease is most associated?

A

Drug: Imatinib
Seen in CML
(Philadelphia CreaML cheese)

32
Q

What are the two causes that make up Hereditary Spherocytosis, and what do they do?

A

Ankyrin and spectrin (gives the cell it’s biconcave shape), this looks more spherical.

33
Q

What test is administered to diagnose Hereditary Spherocytosis?

A

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)).

34
Q

What is the cause of Paroxysmal nocturnal hemoglobinuria?

A

Red cells are missing the surface markers CD55 and CD59. Complement attacks them and lyses red cells.

35
Q

What is the cause of Sickle Cell disease?

A

Hemoglobin S mutation is a single amino acid replacement, where Valine is used instead of Glutamic acid in position 6.

36
Q

What is Hemoglobin C disease?

A

Point mutation on the Beta-globin gene. Lysine is substituted for glutamic acid –> causes hexagonal crystals in the cell.

37
Q

What is the difference between Hemoglobin S, to Hemoglobin C?

A

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.

38
Q

What is the treatment for sickle cell disease?

A

Hydroxyurea and or bone marrow transplantation

39
Q

What test checks for bleeding time on Px with Hemophilia A and von Willebrand disease?

A

PTT

40
Q

Hemosiderinuria and thrombosis

A

Paroxysmal nocturnal Hemoglobinuria (PNH)

41
Q

Eczema, recurrent infections, and thrombocytopenia… what disease is at hand?

A

Wiscott-Alderich Syndrome

42
Q

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?

A

Acute intermittent porphyria
Deficient enzyme: porphobilinogen deaminase
Tx- give glucose and heme which will downregulate ALA synthase.

43
Q

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?

A

Dx: Porphyria Cutanea Tarda

Deficient enzyme: Uroporphyrinogen decarboxylase

44
Q
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
A

Polycythemia Vera

60% of children with trisomy 21 present with it at birth

45
Q

What are the 4 tumors that can cause Polycythemia Vera?

A

“Potentially Really High Hematocrit”

Pheochromocytoma
Renal Cell Carcinoma
Hepatocellular Carcinoma
Hemangioblastoma