Quantitative Blood Cell Disorders

Question 1

Manifestations of IDA - Blood:

• MCV
• MCH
• RDW
• P.smear

Answer 1

• Decreased MCV
• Decreased MCH (Hypochromia)
• Increased RDW (Anisocytosis)
• Poikilocytosis (pencil cells), Thrombocytosis

Question 2

Manifestations of IDA - Chemistries:

• Iron
• TIBC
• Ferritin
• Iron Saturation
• Zinc Protoporphyrin (ZZP)

Answer 2

• Decreased Iron
• Increased TIBC
• Decreased Ferritin
• Decreased Iron Saturation
• Increased ZZP

Question 3

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

Answer 3

IDA and Thalassemia

Question 4

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

Answer 4

IDA (often >17; anisocytosis)

Question 5

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

Answer 5

IDA (typical)

*uncommon in thalassemia or ACD

Question 6

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

Answer 6

Serum Ferritin

Question 7

Folate is a cofactor in what reactions?

Answer 7

Methyl transfer reactions
(dUMP to dTMP in DNA synthesis)

*Deficiency leads to impaired DNA synthesis

Question 8

Folate:

• Main source
• Absorbed

Answer 8

• Green Vegetables

- Proximal small bowel

Question 9

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

Answer 9

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

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

Question 10

How is Vit. B12 processed and absorbed?

Answer 10

• 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

Question 11

P. smear findings of B12 and Folate deficiency:

Answer 11

• Oval macrocytosis
• Hypersegmented neutrophils
• Giant platelets

Question 12

Folate deficiency chemistries:

• LD
• Indirect bilirubin
• Serum/RBC folate
• Urinary Formiminoglutamic Acid (FIGLU)

Answer 12

• Increased LD
• Increased Indirect bilirubin
• Decreased Serum and RBC folate
• Increased urinary FIGLU

Question 13

Vit. B12 deficiency chemistries:

• LD
• Indirect bilirubin
• Serum B12
• Methylmalonic acid (MMA)
• RBC folate

Answer 13

• Increased LD
• Increased Indirect bilirubin
• Decreased serum B12
• Increased MMA
• Decreased RBC folate (66% of cases)

Question 14

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

Answer 14

True

Question 15

What may cause a falsely low B12 level?

Answer 15

HIV

Question 16

What may cause a falsely elevated B12 level?

Answer 16

• Myeloproliferative neoplasms
• Hepatic insufficiency
• Renal insufficiency

Question 17

What is a sensitive and specific marker for pernicious anemia?

Answer 17

AntiIntrinsic Factor (anti-IF)

Question 18

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

Answer 18

Anemia of Chronic Disease (ACD)

Question 19

ACD Vs. IDA:

-TIBC

Answer 19

IDA-Increased

ACD-Normal to Decreased

Question 20

ACD Vs. IDA:

-%transferrin saturation

Answer 20

IDA <10%

ACD >15%

Question 21

ACD Vs. IDA:

-Serum Soluble Transferrin Receptor (SSTR)

Answer 21

IDA - Increased

ACD - Normal

Question 22

ACD Vs. IDA:

-Ferritin

Answer 22

IDA - Decreased

ACD - Normal to Increased

Question 23

Sideroblastic Anemia:

-P. smear (3)

Answer 23

• Hypochromic
• Bimodal RBC volume distribution
• Basophilic stippling

Question 24

What is basophilic stippling attributed to?

Answer 24

Iron containing Pappenheimer bodies

Question 25

Sideroblastic Anemia: | -Bone Marrow (3)

Answer 25

- Ringed sideroblasts - Increased Iron stores - Erythroid hyperplasia

Question 26

Sideroblastic Anemia - Lab findings: - Iron - Transferring % saturation - Ferritin

Answer 26

- Increased Iron - High Transferrin % sat - Increased Ferritin

Question 27

Inherited Sideroblastic Anemia inheritance/gene.

Answer 27

X-linked recessive | -ALAS2

Question 28

What is Pearson syndrome?

Answer 28

Sideroblastic anemia with pancreatic insufficiency *microdeletion within the mitochondrial DNA

Question 29

What is the most common form of Congenital Dyserthropoietic Anemia (CDA)? - Inheritance - BM finding - Test

Answer 29

CDA type II (HEMPAS) - Autosomal Recessive - Multinucleate Erythroid precursors - Positive Acidified Serum Test

Question 30

What is the characteristic BM finding in CDA type I?

Answer 30

Dysplastic erythroid precursors with frequent internuclear bridges

Question 31

CDA have a high density of which antigens?

Answer 31

I and i

Question 32

What is Fanconi anemia (FA)? - Inheritance - Genetic defect - Complications

Answer 32

- Autosomal Recessive - Chromosomal breakage syndrome - Aplastic Anemia, Myelodysplasia, and/or AML (monocytic/monoblastic)

Question 33

What other malignancies are associated with Fanconi Anemia?

Answer 33

Epithelial: - Cutaneous - Hepatocellular - Gastric

Question 34

What are associated findings with Fanconi Anemia? (5)

Answer 34

- Absent thumbs or radii - Microcephaly - Renal anomalies - Short stature - Cafe-au-lait

Question 35

What Hb is elevated in Fanconi Anemia?

Answer 35

HbF

Question 36

Most common gene mutations in FA?

Answer 36

FANCA, FANCC, FANCG

Question 37

Which population has a higher incidence of FA?

Answer 37

White South Africans

Question 38

What is the congenital pure red cell aplasia?

Answer 38

Blackman Diamond Syndrome

Question 39

Blackman Diamond Syndrom Features: - BM - Antigen overexpressed - Enzyme increased - Hb type increased - Treatment

Answer 39

- Marrow erythroid precursors absent - I antigen is overexpressed on RBCs - Erythrocyte Adenosine Deaminase (ADA) Increased - HbF is increased - 75% respond to corticosteroids

Question 40

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

Answer 40

Congenital Amegakaryoctyic Thrombocytopenia (CAMT)

Question 41

Congenital Amegakaryocytic Thrombocytopenia (CAMT) gene mutation

Answer 41

MPL gene (thrombopoietin receptor)

Question 42

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

Answer 42

Kostmann syndrome (Congenital Neutropenia)

Question 43

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

Answer 43

``` KLA2 gene (neutrophil elastase) -chr19 ```

Question 44

Germline causes of Aplastic Anemia. (7)

Answer 44

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