Answer each question using only your own words. No credit will be awarded for any answers copied from other sources.
Part 1: Terminology
(15 points)
In your own words, provide a one or two sentence description for each of the following terms. Indicate underlying cellular / molecular mechanisms in your description.
- DCytB:
- Ferritin:
- Ferroportin:
- Transferrin:
- Hepcidin:
- Hemochromatosis:
- HbH:
- Mentzer index:
- HbS:
- Vaso-occlusive crisis:
- Intrinsic factor:
- Nuclear cytoplasmic asynchrony:
- Megaloblastic madness:
- Hypocellularity:
- Fanconi anemia:
Part 2: Iron Studies & Megaloblastic Anemia Diagnostic Tests
(10 points)
- Iron Studies (2 pts):
Explain why sTfr (serum transferrin receptor) level is a useful differential diagnostic parameter for distinguishing between IDA & ACD when serum ferritin levels are normal.
- Biochemical tests for Cobalamin & Folate (4 pts):
Briefly explain the biochemical basis of measuring MMA and Homocysteine in diagnosis of cobalamin and folate deficiencies.
- Cellular morphology tests for megaloblastic vs non-megaloblastic anemia (4 pts):
a) What key cellular characteristics are indicative of megaloblastic anemia? Consider both peripheral blood smears and bone marrow samples.
b) How does this contrast with cells observed in patients with non-megaloblastic macrocytic anemia?
Part 3: CBC Diagnostics
(15 points)
Refer to the reference tables in Appendix A of your textbook, and information in assigned reading to answer the following questions. (3 pts each)
- Patient: 28-year-old pregnant female
CBC results:
- WBC: 4 X109/L
- RBC: 2.6 X1012/L
- HGB: 10.5g/dL
- HCT: 32%
- MCV:123 fL
- MCH: 40 pg
- MCHC: 33 g/dL
- RDW: 21
- PLT: 149 X109/L
- RBC morphology: macro-ovalocytes (2+), some Howell-Jolly bodies
- Neutrophil morphology: moderate hyper-segmented neutrophils
- MMA: normal
- Homocysteine: elevated
What is a likely diagnosis? Explain
What kinds of dietary adjustments could be a remedy for this condition?
What is the most pressing concern if this patient’s condition is not treated?
- Patient: 40-year-old male complains of fatigue, as well as numbness and tingling sensations in fingers and toes.
CBC results:
- WBC: 3.9 X109/L
- RBC: 2.8 X1012/L
- HGB: 11.4 g/dL
- HCT: 35%
- MCV: 126 fL
- MCH: 40.7 pg
- MCHC: 32.7 g/dL
- RDW: 21.2
- PLT: 148 X109/L
- RBC morphology: macro-ovalocytes (3+), Howell-Jolly bodies observed
- Neutrophil morphology: significant hypersegmented neutrophils
- MMA: elevated
- Homocysteine: elevated
What is a likely diagnosis? Explain
What kinds of follow-up tests should be done to further determine the underlying cause? Explain
- Patient: 1-year-old infant; infant is lethargic and pale.
CBC results:
- WBC: 10 X109/L
- RBC: 1.2 X1012/L
- Hb: 6 g/dL (increased HbF)
- PLT: 200 X109/L
- Serum iron: slightly above normal
- Serum ferritin: slightly above normal
- RBC morphology: normocytic, normochromic
- Neutrophil morphology: normal
- MMA: normal
- Homocysteine: normal
Name a diagnosis that is consistent with these CBC results. Explain.
What additional tests should be performed to further confirm this diagnosis? Is there an alternative condition that might have similar CBC results? Explain.
- A 60-year-old male presents with the following physical characteristics: fatigue, jaundice, slight splenomegaly.
CBC results:
- WBC: 4.2 X109/L
- RBC: 4 X1012/L
- HGB: 12 g/dL
- PLT: 145 X109/L
- RBC morphology: normochromic, slightly macrocytic; some stomatocytes observed
- Neutrophil morphology: normal morphology
- MMA: normal
- Homocysteine: slightly increased
What is a likely diagnosis? Explain.
What other specific tests should be done to confirm the diagnosis?
What kinds of life-style questions would be appropriate to ask this patient?
- Patient: 16-year-old female complaining of weakness, fatigue, recurring fevers, and easy bruising.
CBC results:
- WBC: 1.3 X109/L
- RBC: 2.3 X1012/L
- Hb: 7g/dL
- HCT: 24%
- MCV: 104 fL
- PLT: 30 X109/L
- RBC morphology: normochromic, slightly macrocytic
- Neutrophil morphology: normal, but immature band neutrophils also present
Based on what is covered in this module, what is a possible diagnosis? Explain.
What would you expect a bone preparation to indicate? (What kinds of cells predominate in the bone marrow of this patient?)
Describe some of the possible underlying causes of this ailment.
