44 - Anemia Case Study

Question 1

What is the chief complain of our anemia case study?

Answer 1

• 22 year old white female, Amy W., presents to your office for pre-op surgical consult prior to elective hammertoe repair of the 2nd toe, bilateral, under local anesthesia

Question 2

What is the patient’s history?

Answer 2

• Family history of hammertoes
• Patient wears high-heels regularly in her job as a fashion model and finds it more difficult due to hammertoes
• Relates that most members of her family have long 2nd toes

Question 3

Describe the other patient history

Answer 3

- MH: unremarkable
= SH: no alcohol, 4 cans of diet Coke®/day, no illicit drugs, vegetarian, works out daily in health club
- FH: unremarkable
- Drugs: None
- Allergies: None
- ROS: occasional fatigue

Question 4

What did the pre-op CBC indicate?

Answer 4

• Low hemoglobin -anemia
• Low MCV -microcytic anemia

Hb –> if there is low hemoglobin, you have anemia, this is the clinical definition (NOT RBCs, Hb***)

MCV –> mean corpuscular volume, tells you the size of the RBCs – if size is lower than normal, it is MICROCYTIC anemia , if size is higher than normal, it is MACROCYTIC anemia

Question 5

What is the next step?

Answer 5

Call the patient to ask questions

Question 6

What questions will you ask?

Answer 6

Is there any family history of anemia or blood disorders?
- Nephew receives regular blood transfusions for clotting problem

Do you have normal menstruation?
- “Heavy” bleeding

Do you take vitamins?
- Yes, with an iron supplement as suggested by OB-GYN

Have you been diagnosed with an iron deficiency anemia?
- “Yes, by my OB-GYN who is also my PCP”

Question 7

What will you want to call and ask the OBGYN?

Answer 7

Past blood work

Nurse relates that last 4 CBC’s taken at time of annual PAP smear and pelvic exam showed similar values. No other hematological studies performed.

Question 8

You decide to do a peripheral blood smear. What would you see?

Answer 8

Smear shows microcytes with…

• Anisocytosis (different sizes)
• Poikilocytosis (different shapes)
• Hypochromia (excess pallor in center of RBC)

Question 9

What is your differential diagnosis?

Answer 9

Microcytic Anemia** –> you will now look at ISAT for the major differential of what is going on **

ISAT

I - Iron deficiency anemia
S - Sideroblastosis
A - Anemia of chronic disease
T - Thalassemia

Question 10

What tests will you order?

Answer 10

Serum ferritin-42 ug/ml (10-300)

With a normal ferritin, diagnosis of iron deficiency is unlikely

Question 11

What do you order next?

Answer 11

Hemoglobin electrophoresis-increased hemoglobin A2

Question 12

What is the diagnosis?

Answer 12

Beta thalassemia trait

This is more common in Mediterranean populations - could have asked about background - she is Italian

Like you will find out, Sickle cell anemia and thalassemia are blood disorders that have evolved to protect people from malaria***

Question 13

What is beta thalassemia trait?

Answer 13

• Genetic disease characterized by globin chain imbalance
• Mutations partially or completely inactivate production of a globin chain leading to imbalance in ratio of α- and β-globin chains
• Alpha has decreased alpha chains
• Βeta has decreased beta chains

Question 14

What does it mean if you have the “trait”?

Answer 14

Trait: Hb production reduced in RBC, leading to microcytic anemia, but does NOT affect RBC production and survival

Question 15

What does it mean if you have the “major”?

Answer 15

Major: profound imbalance in chain production with affects on RBC production or survival

Question 16

What should you know about the beta trait?

Answer 16

• Autosomal recessive disorder
• Child has 25% chance of acquiring disorder if both parents have the trait
• Patients are asymptomatic
• Increased alpha chains need something to bind to, so they usually combine with δ chains to form HbA2 (α2δ2) which increases in concentration above normal 4-7%
• No surgical precautions necessary
• No treatment

Question 17

What you NEED to know is the mnemonic for the different types of anemia

Answer 17

“I sat in a ham damn”

Question 18

Microcytic anemia

Answer 18

I-iron deficiency
S-sideroblastic anemia
A-anemia of chronic disorder
T-thalassemia

Question 19

Normocytic anemia

Answer 19

I-infiltrative bone marrrow disorder
N-nutritional anemia

A-anemia of chronic disorder

H-hemolytic anemia
A-anemia of renal insufficiency
M-myelodysplastic anemia

Question 20

Macrocytic anemia

Answer 20

D-drugs [metformin (glucophage®)]

A-alcohol

M-malabsorption syndromes

N-nutritional anemias

Question 21

What is the most common anemia you will see clinically?

Answer 21

MOST COMMON ANEMIA (that you will see clinically based on your patient population) – normocytic anemia due to chronic disorder

Chronic diseases cause normocytic anemia

Question 22

Can you still take your patient to surgery?

Answer 22

Yes

But you do need to recommend genetic counseling to the patient