6 months old infant with Hb of 6 gm% has anaemic features with peripheral blood showing target cells. Family history of similar complaints is (Positive). Diagnosis can be best done with which of the following –
First, I need to recall the core concept. The key here is the combination of microcytic anemia, target cells, and family history. These are classic signs of thalassemia. Thalassemia is a genetic disorder affecting hemoglobin synthesis, leading to anemia. Target cells are also seen in other conditions like iron deficiency or liver disease, but with a family history, thalassemia is more likely.
The correct answer would be a test that confirms thalassemia. Common diagnostic tests include hemoglobin electrophoresis, which shows abnormal hemoglobin variants. Another option might be genetic testing, but hemoglobin electrophoresis is typically the first step. So if one of the options is hemoglobin electrophoresis, that's the correct answer.
Now, the incorrect options. Let's assume the options are other tests. For example, peripheral blood smear (if listed) would show the target cells but not confirm the diagnosis. Iron studies might be done to rule out iron deficiency anemia, but that's not the case here. Reticulocyte count could be low in thalassemia. Bone marrow biopsy is more invasive and not the first test for this.
The clinical pearl is to remember that target cells with a family history point to thalassemia, and hemoglobin electrophoresis is the key test. Also, thalassemia minor is usually asymptomatic, so the presence of severe anemia suggests a more severe form like beta-thalassemia major.
Putting it all together, the correct answer is hemoglobin electrophoresis. The explanation should highlight the pathophysiology, why other tests are not sufficient, and the importance of family history in diagnosing inherited conditions.
**Core Concept**
This scenario tests knowledge of inherited hemoglobinopathies, specifically *beta-thalassemia*, characterized by microcytic anemia, target cells, and a positive family history. The key diagnostic tool is **hemoglobin electrophoresis** to identify abnormal hemoglobin variants.
**Why the Correct Answer is Right**
Beta-thalassemia results from mutations in the beta-globin gene, leading to reduced or absent beta-globin synthesis. This causes ineffective erythropoiesis and hemolysis. Hemoglobin electrophoresis reveals elevated HbAβ and HbF (in beta-thalassemia major) or normal HbAβ (in beta-thalassemia minor). The presence of target cells (due to membrane instability in hypochromic RBCs) and family history further support this diagnosis.
**Why Each Wrong Option is Incorrect**
**Option A:** *Iron studies* are incorrect because iron deficiency anemia lacks target cells and family history, and serum ferritin would be low, not normal.
**Option B:** *Peripheral blood smear* shows target cells but does not confirm the diagnosis; it is part of the initial workup, not definitive.
**Option C:**