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Boards.CP.Heme > Quantitative Blood Cell Disorders > Flashcards

Quantitative Blood Cell Disorders Flashcards

1
Q

Manifestations of IDA - Blood:

  • MCV
  • MCH
  • RDW
  • P.smear
A
  • Decreased MCV
  • Decreased MCH (Hypochromia)
  • Increased RDW (Anisocytosis)
  • Poikilocytosis (pencil cells), Thrombocytosis
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2
Q

Manifestations of IDA - Chemistries:

  • Iron
  • TIBC
  • Ferritin
  • Iron Saturation
  • Zinc Protoporphyrin (ZZP)
A
  • Decreased Iron
  • Increased TIBC
  • Decreased Ferritin
  • Decreased Iron Saturation
  • Increased ZZP
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3
Q

Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Which are more likely to be Microcytic and Demonstrate Target Cells?

A

IDA and Thalassemia

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4
Q

Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Which has the highest RDW?

A

IDA (often >17; anisocytosis)

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5
Q

Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Pencil cells and prekeratocytes

A

IDA (typical)

*uncommon in thalassemia or ACD

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6
Q

What chemistry analyte is the best single test to diagnose IDA?

A

Serum Ferritin

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7
Q

Folate is a cofactor in what reactions?

A

Methyl transfer reactions
(dUMP to dTMP in DNA synthesis)

*Deficiency leads to impaired DNA synthesis

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8
Q

Folate:

  • Main source
  • Absorbed
A
  • Green Vegetables

- Proximal small bowel

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9
Q

Vit. B12 is a cofactor for which enzymes? (what is the main source)

A

Formation of active form of Folate (THF)
-animal products

*deficiency leads to accumulation of inactive form (methyl folate)

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10
Q

How is Vit. B12 processed and absorbed?

A
  • Bound to R factor in stomach
  • Released by pancreatic enzymes in duodenum
  • Binds IF (gastric derived)
  • IF bound B12 absobed in Ileum
  • Bound to transcolbalamin I & II in enterocytes
  • Exported to bloodstream
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11
Q

P. smear findings of B12 and Folate deficiency:

A
  • Oval macrocytosis
  • Hypersegmented neutrophils
  • Giant platelets
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12
Q

Folate deficiency chemistries:

  • LD
  • Indirect bilirubin
  • Serum/RBC folate
  • Urinary Formiminoglutamic Acid (FIGLU)
A
  • Increased LD
  • Increased Indirect bilirubin
  • Decreased Serum and RBC folate
  • Increased urinary FIGLU
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13
Q

Vit. B12 deficiency chemistries:

  • LD
  • Indirect bilirubin
  • Serum B12
  • Methylmalonic acid (MMA)
  • RBC folate
A
  • Increased LD
  • Increased Indirect bilirubin
  • Decreased serum B12
  • Increased MMA
  • Decreased RBC folate (66% of cases)
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14
Q

T/F: Vit. B12 deficiency does not affect serum folate.

A

True

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15
Q

What may cause a falsely low B12 level?

A

HIV

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16
Q

What may cause a falsely elevated B12 level?

A
  • Myeloproliferative neoplasms
  • Hepatic insufficiency
  • Renal insufficiency
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17
Q

What is a sensitive and specific marker for pernicious anemia?

A

AntiIntrinsic Factor (anti-IF)

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18
Q

What is the most common cause of anemia in hospitalized patients>

A

Anemia of Chronic Disease (ACD)

19
Q

ACD Vs. IDA:

-TIBC

A

IDA-Increased

ACD-Normal to Decreased

20
Q

ACD Vs. IDA:

-%transferrin saturation

A

IDA <10%

ACD >15%

21
Q

ACD Vs. IDA:

-Serum Soluble Transferrin Receptor (SSTR)

A

IDA - Increased

ACD - Normal

22
Q

ACD Vs. IDA:

-Ferritin

A

IDA - Decreased

ACD - Normal to Increased

23
Q

Sideroblastic Anemia:

-P. smear (3)

A
  • Hypochromic
  • Bimodal RBC volume distribution
  • Basophilic stippling
24
Q

What is basophilic stippling attributed to?

A

Iron containing Pappenheimer bodies

25
Q

Sideroblastic Anemia:

-Bone Marrow (3)

A
  • Ringed sideroblasts
  • Increased Iron stores
  • Erythroid hyperplasia
26
Q

Sideroblastic Anemia - Lab findings:

  • Iron
  • Transferring % saturation
  • Ferritin
A
  • Increased Iron
  • High Transferrin % sat
  • Increased Ferritin
27
Q

Inherited Sideroblastic Anemia inheritance/gene.

A

X-linked recessive

-ALAS2

28
Q

What is Pearson syndrome?

A

Sideroblastic anemia with pancreatic insufficiency

*microdeletion within the mitochondrial DNA

29
Q

What is the most common form of Congenital Dyserthropoietic Anemia (CDA)?

  • Inheritance
  • BM finding
  • Test
A

CDA type II (HEMPAS)

  • Autosomal Recessive
  • Multinucleate Erythroid precursors
  • Positive Acidified Serum Test
30
Q

What is the characteristic BM finding in CDA type I?

A

Dysplastic erythroid precursors with frequent internuclear bridges

31
Q

CDA have a high density of which antigens?

A

I and i

32
Q

What is Fanconi anemia (FA)?

  • Inheritance
  • Genetic defect
  • Complications
A
  • Autosomal Recessive
  • Chromosomal breakage syndrome
  • Aplastic Anemia, Myelodysplasia, and/or AML (monocytic/monoblastic)
33
Q

What other malignancies are associated with Fanconi Anemia?

A

Epithelial:

  • Cutaneous
  • Hepatocellular
  • Gastric
34
Q

What are associated findings with Fanconi Anemia? (5)

A
  • Absent thumbs or radii
  • Microcephaly
  • Renal anomalies
  • Short stature
  • Cafe-au-lait
35
Q

What Hb is elevated in Fanconi Anemia?

A

HbF

36
Q

Most common gene mutations in FA?

A

FANCA, FANCC, FANCG

37
Q

Which population has a higher incidence of FA?

A

White South Africans

38
Q

What is the congenital pure red cell aplasia?

A

Blackman Diamond Syndrome

39
Q

Blackman Diamond Syndrom Features:

  • BM
  • Antigen overexpressed
  • Enzyme increased
  • Hb type increased
  • Treatment
A
  • Marrow erythroid precursors absent
  • I antigen is overexpressed on RBCs
  • Erythrocyte Adenosine Deaminase (ADA) Increased
  • HbF is increased
  • 75% respond to corticosteroids
40
Q

Autosomal recessive disorder presenting in neonates with severe thrombocytopenia and absence of megakaryocytes in the marrow.

A

Congenital Amegakaryoctyic Thrombocytopenia (CAMT)

41
Q

Congenital Amegakaryocytic Thrombocytopenia (CAMT) gene mutation

A

MPL gene (thrombopoietin receptor)

42
Q

Syndrome associated with Neutropenia with recurrent fever, cervical lymphadenopathy, oral ulcers, gingivitis, sinusitis, and pharyngitis.

A

Kostmann syndrome (Congenital Neutropenia)

43
Q

Mutation in what gene/chromosome are responsible for both Kostmann syndrome and Cyclic neutropenia?

A 
KLA2 gene (neutrophil elastase)
-chr19
44
Q

Germline causes of Aplastic Anemia. (7)

A
  • Fanconi Anemia
  • Diamond-Blackfan
  • Dyskeratosis Congenita
  • Kostmann
  • CAMT
  • Shwachman-Diamond
  • Down Syndrome

Boards.CP.Heme (15 decks)

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