1. MLAB 2401: Clinical Chemistry Keri Brophy-Martinez
Chapter 5: Hemoglobin Production Disorders

2. Iron Deficiency Lab Features Microcytic, hypochromic anemia
Anisocytosis, poikilocytosis
Total iron and Percent saturation decreased
TIBC increased

3. Hemosiderosis
Excessive levels of iron in storage

4. Hemochromatosis
Characterized by an increased rate of absorption and less ferritin production
Excessive iron deposits in organs
Patient develops bronze color in the tissues
Total iron, percent saturation increased
TIBC decreased

5. Iron Status in Disease States
Condition
Serum Iron
Transferrin
Ferritin
% Saturation
IDA
Decreased
Increased
Iron Overdose
Hematochromatosis
Slight Decrease
Malnutrition
Variable
Chronic anemia
Normal/decreased
Normal/increased
decreased
Acute liver disease

6. Case Scenario #1
A 40-year-old female is scheduled to have an elective surgery. Her physician ordered a routine CBC pre-op. The following test results were obtained:
Test
Result
Reference Range
Hgb (g/dL) 10
Hct (%)
29.9
42-52
MCV (fL) 75
80-100
MCHC (g/dL) 30
32-36
WBC (x 103/L)
6.0
4.5-11
Plts (x 109/L)
200

7. Case Scenario #1
On review of her blood smear, the technician noted target cells.
What other types of morphology would we expect to see on this patient?
The physician then ordered a serum iron, ferritin and TIBC level.

8. Case Scenario #1 Below are the results on the additional tests:
What is her diagnosis?
Test
Result
Reference Range
Serum iron ( µg/dL) 20
65-165
Ferritin ( µg/dL) 5
20-200
TIBC ( µg/dL)
550

9. Hemoglobin Disorders Refer to Hematology notes
Chapter 10: Hemoglobinopathies
Chapter 11: Thalassemia

10. Porphyrin Disorders= Porphyrias
Inherited or Acquired
Enzyme deficiencies resulting in overproduction of heme precursors in bone marrow or liver

11. Porphrias Classification Based on Specific enzyme deficiency
Hepatic vs erythropoietic
Cutaneous vs neurologic

12. Porphyrias Clinical symptoms Cutaneous photosensitivity Itchy skin
Hyperpigmentation
Inflammatory reaction occurs on exposure to ultraviolet light
Neurologic abnormalities due to increased ALA and PBG

14. Porphyrin Conditions Secondary Conditions Porphyrinuria
Increase in coproporphyrin production
Causes
Lead intoxication
Liver damage
Infection
Accelerated erythropoiesis
Porphyrinemia
Increase in erythrocytic protoporphyrin concentration
Iron deficiency
Impaired Iron absorption
Chronic infection

16. Myoglobin Elevations Acute myocardial Renal failure Vigorous exercise
Electric shock
Intramuscular injections

17. LEAD Clinical Features Children Adults
CNS symptoms: headache ,clumsiness, seizures, behavioral changes
GI symptoms: Abdominal pain, colic, constipation
Adults
Peripheral neuropathies, motor weakness, anemia

18. Case Scenario #2
A mother brings her active 2-year-old son to the pediatrician for a routine visit. The physician orders a CBC. Below are the results:
Test
Result
Reference Range
Hgb (g/dL)
10.2
Hct (%)
30.6
36-46

19. Case Scenario #2
The mother reports that her son has had some constipation and abdominal pain. The child does eat well, and the mother gives the child a vitamin supplement, which includes iron
The mother did mention that they live in an older home that is in need of repainting.
The physician orders further testing…

20. Case Scenario #2 Results of testing Test Result Reference Range
Serum iron
120
65-165
Ferritin
150
20-200
Whole blood lead (µg/dL) 60
< 10
Erythrocyte protoporphyrin (µg/dL)
17-77

21. What is the diagnosis? Lead Poisoning How does this occur?
Lead inhibits certain enzymes in the heme synthesis pathway

22. Case Scenario #2
IDA was ruled out based on the serum iron and ferritin levels