Quantitative Blood Cell Disorders Flashcards
Manifestations of IDA - Blood:
- MCV
- MCH
- RDW
- P.smear
- Decreased MCV
- Decreased MCH (Hypochromia)
- Increased RDW (Anisocytosis)
- Poikilocytosis (pencil cells), Thrombocytosis
Manifestations of IDA - Chemistries:
- Iron
- TIBC
- Ferritin
- Iron Saturation
- Zinc Protoporphyrin (ZZP)
- Decreased Iron
- Increased TIBC
- Decreased Ferritin
- Decreased Iron Saturation
- Increased ZZP
Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Which are more likely to be Microcytic and Demonstrate Target Cells?
IDA and Thalassemia
Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Which has the highest RDW?
IDA (often >17; anisocytosis)
Morphology overlaps in IDA, thalassemia and Anemia of Chronic Disease (ACD):
-Pencil cells and prekeratocytes
IDA (typical)
*uncommon in thalassemia or ACD
What chemistry analyte is the best single test to diagnose IDA?
Serum Ferritin
Folate is a cofactor in what reactions?
Methyl transfer reactions
(dUMP to dTMP in DNA synthesis)
*Deficiency leads to impaired DNA synthesis
Folate:
- Main source
- Absorbed
- Green Vegetables
- Proximal small bowel
Vit. B12 is a cofactor for which enzymes? (what is the main source)
Formation of active form of Folate (THF)
-animal products
*deficiency leads to accumulation of inactive form (methyl folate)
How is Vit. B12 processed and absorbed?
- 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
P. smear findings of B12 and Folate deficiency:
- Oval macrocytosis
- Hypersegmented neutrophils
- Giant platelets
Folate deficiency chemistries:
- LD
- Indirect bilirubin
- Serum/RBC folate
- Urinary Formiminoglutamic Acid (FIGLU)
- Increased LD
- Increased Indirect bilirubin
- Decreased Serum and RBC folate
- Increased urinary FIGLU
Vit. B12 deficiency chemistries:
- LD
- Indirect bilirubin
- Serum B12
- Methylmalonic acid (MMA)
- RBC folate
- Increased LD
- Increased Indirect bilirubin
- Decreased serum B12
- Increased MMA
- Decreased RBC folate (66% of cases)
T/F: Vit. B12 deficiency does not affect serum folate.
True
What may cause a falsely low B12 level?
HIV
What may cause a falsely elevated B12 level?
- Myeloproliferative neoplasms
- Hepatic insufficiency
- Renal insufficiency
What is a sensitive and specific marker for pernicious anemia?
AntiIntrinsic Factor (anti-IF)
What is the most common cause of anemia in hospitalized patients>
Anemia of Chronic Disease (ACD)
ACD Vs. IDA:
-TIBC
IDA-Increased
ACD-Normal to Decreased
ACD Vs. IDA:
-%transferrin saturation
IDA <10%
ACD >15%
ACD Vs. IDA:
-Serum Soluble Transferrin Receptor (SSTR)
IDA - Increased
ACD - Normal
ACD Vs. IDA:
-Ferritin
IDA - Decreased
ACD - Normal to Increased
Sideroblastic Anemia:
-P. smear (3)
- Hypochromic
- Bimodal RBC volume distribution
- Basophilic stippling
What is basophilic stippling attributed to?
Iron containing Pappenheimer bodies
Sideroblastic Anemia:
-Bone Marrow (3)
- Ringed sideroblasts
- Increased Iron stores
- Erythroid hyperplasia
Sideroblastic Anemia - Lab findings:
- Iron
- Transferring % saturation
- Ferritin
- Increased Iron
- High Transferrin % sat
- Increased Ferritin
Inherited Sideroblastic Anemia inheritance/gene.
X-linked recessive
-ALAS2
What is Pearson syndrome?
Sideroblastic anemia with pancreatic insufficiency
*microdeletion within the mitochondrial DNA
What is the most common form of Congenital Dyserthropoietic Anemia (CDA)?
- Inheritance
- BM finding
- Test
CDA type II (HEMPAS)
- Autosomal Recessive
- Multinucleate Erythroid precursors
- Positive Acidified Serum Test
What is the characteristic BM finding in CDA type I?
Dysplastic erythroid precursors with frequent internuclear bridges
CDA have a high density of which antigens?
I and i
What is Fanconi anemia (FA)?
- Inheritance
- Genetic defect
- Complications
- Autosomal Recessive
- Chromosomal breakage syndrome
- Aplastic Anemia, Myelodysplasia, and/or AML (monocytic/monoblastic)
What other malignancies are associated with Fanconi Anemia?
Epithelial:
- Cutaneous
- Hepatocellular
- Gastric
What are associated findings with Fanconi Anemia? (5)
- Absent thumbs or radii
- Microcephaly
- Renal anomalies
- Short stature
- Cafe-au-lait
What Hb is elevated in Fanconi Anemia?
HbF
Most common gene mutations in FA?
FANCA, FANCC, FANCG
Which population has a higher incidence of FA?
White South Africans
What is the congenital pure red cell aplasia?
Blackman Diamond Syndrome
Blackman Diamond Syndrom Features:
- BM
- Antigen overexpressed
- Enzyme increased
- Hb type increased
- Treatment
- Marrow erythroid precursors absent
- I antigen is overexpressed on RBCs
- Erythrocyte Adenosine Deaminase (ADA) Increased
- HbF is increased
- 75% respond to corticosteroids
Autosomal recessive disorder presenting in neonates with severe thrombocytopenia and absence of megakaryocytes in the marrow.
Congenital Amegakaryoctyic Thrombocytopenia (CAMT)
Congenital Amegakaryocytic Thrombocytopenia (CAMT) gene mutation
MPL gene (thrombopoietin receptor)
Syndrome associated with Neutropenia with recurrent fever, cervical lymphadenopathy, oral ulcers, gingivitis, sinusitis, and pharyngitis.
Kostmann syndrome (Congenital Neutropenia)
Mutation in what gene/chromosome are responsible for both Kostmann syndrome and Cyclic neutropenia?
KLA2 gene (neutrophil elastase) -chr19
Germline causes of Aplastic Anemia. (7)
- Fanconi Anemia
- Diamond-Blackfan
- Dyskeratosis Congenita
- Kostmann
- CAMT
- Shwachman-Diamond
- Down Syndrome
