A 24-year-old male medical student in the United States was found to have a hemoglobin level of 10.2 g/dL in a hematolog

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answerhappygod
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A 24-year-old male medical student in the United States was found to have a hemoglobin level of 10.2 g/dL in a hematolog

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A 24-year-old male medical student in the United States was
found to have a hemoglobin level of 10.2 g/dL in a hematology
laboratory class. During discussion of the family history with this
student, a hematologist at the university discovered that his
mother had always been anemic, had periodically been given iron
therapy, and had a history of several acute episodes of gallbladder
disease (attacks). Both of the student’s parents had been born in
Sicily. A cousin on his mother’s side had two
children who died of thalassemia major at the ages of 4 and 5 years
and had a third young daughter with thalassemia major who was being
treated with regular blood transfusions. The student’s laboratory
test results were as follows:
Patient Results
Reference Interval
RBC (× 1012/L)
5.74
4.60–6.00
HGB (g/dL)
10.2
14.0–18.0
HCT (%)
35
40–54
MCV (fL)
61.0
80–100
MCH (pg)
17.8
26–32
MCHC (g/dL)
29.1
32–36
Peripheral blood RBCs
exhibited moderate microcytosis, slight hypochromia,
and
slight poikilocytosis with occasional target
cells, and several RBCs had
basophilic stippling. Hb A2 was 4.9% of total
hemoglobin by high-performance liquid chromatography
(reference interval, 0% to 3.5%). Serum ferritin level was 320
ng/mL (reference interval, 15 to 400 ng/mL).
1. Why was the family history so important
in this case, and what diagnosis did it suggest?
2. What laboratory values helped confirm
the diagnosis?
3. From what other disorders should this
anemia be differentiated? What laboratory tests would be helpful?
Why is differentiation important?
4. If this individual was planning to have
children, what genetic counseling should be done?
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