From the Guidelines
The best next step in evaluation of this patient is hemoglobin electrophoresis (option B). This 13-year-old girl presents with chronic fatigue, pallor, and microcytic anemia (low hemoglobin of 7.9 g/dL and low MCV of 65 µm3) with a family history of chronic anemia in her Greek relatives, particularly her mother and maternal uncles. This pattern strongly suggests thalassemia, a hereditary hemoglobinopathy common in Mediterranean populations [ 1 ]. While iron deficiency is possible given her heavy menstrual bleeding and vegetarian diet, the family history and ethnic background make thalassemia a primary concern. Hemoglobin electrophoresis would identify abnormal hemoglobin variants and help distinguish between thalassemia syndromes and other hemoglobinopathies.
Key Considerations
- Iron studies would be reasonable to rule out iron deficiency, but the family history and ethnic background make thalassemia more likely as the primary diagnosis [ 1 ].
- Bone marrow evaluation is too invasive as an initial test.
- Lead poisoning is unlikely given the 1980s housing (after lead paint restrictions), and vitamin B12 deficiency typically causes macrocytic rather than microcytic anemia.
- Identifying thalassemia is crucial for appropriate management, genetic counseling, and to avoid unnecessary iron supplementation if iron overload is present.
Rationale for Choice
The patient's presentation and family history point towards a hereditary cause of anemia, with thalassemia being a strong candidate due to her Greek heritage [ 1 ]. Given the potential for thalassemia, hemoglobin electrophoresis is the most appropriate next step to confirm the diagnosis and guide further management. This approach prioritizes the patient's morbidity, mortality, and quality of life by ensuring an accurate diagnosis and appropriate treatment plan.
From the Research
Patient Evaluation
The patient presents with symptoms of anemia, including tiredness, pale appearance, and heavy menstrual bleeding. The family history of chronic anemia, particularly in the mother and maternal uncles, suggests a possible genetic component to the patient's condition.
Laboratory Results
The complete blood count shows:
- Low hemoglobin level (7.9 g/dL)
- Microcytic anemia (mean corpuscular volume 65 µm3)
- Normal leukocyte and platelet counts
Differential Diagnosis
The patient's symptoms and laboratory results suggest two possible diagnoses:
- Iron deficiency anemia (IDA)
- Beta thalassemia trait (BTT)
Next Steps in Evaluation
Based on the studies 2, 3, 4, the best next step in evaluation would be to conduct iron studies to differentiate between IDA and BTT.
- Key points to consider:
- IDA and BTT can coexist, and iron deficiency can confound the diagnosis of BTT 2
- Serum ferritin levels can help distinguish between IDA and BTT, with low levels indicating IDA and normal or high levels indicating BTT 3
- Red cell flags and red cell distribution width can also be useful in differentiating between IDA and BTT 4 Therefore, option C (Iron studies) is the most appropriate next step in evaluating this patient.