A 23 year old female presenting with anemia, jaundice, for 2 years, peripheral smear showing spherocytes, the best investigation to be done
**Core Concept**
The patient's presentation of anemia, jaundice, and spherocytes on peripheral smear is suggestive of hereditary spherocytosis, a congenital disorder characterized by the production of abnormal, sphere-shaped red blood cells. This condition is often due to mutations in genes encoding proteins crucial for the structural integrity of the red blood cell membrane.
**Why the Correct Answer is Right**
The best investigation to confirm the diagnosis would be a **hemoglobin electrophoresis**. This test involves separating the different types of hemoglobin in the blood based on their charge, allowing for the identification of abnormal hemoglobin variants associated with hereditary spherocytosis. The patient's family history and the presence of spherocytes on peripheral smear further support the need for this investigation.
**Why Each Wrong Option is Incorrect**
**Option A:** **Complete Blood Count (CBC)** - While a CBC may reveal anemia and jaundice, it does not specifically diagnose hereditary spherocytosis.
**Option B:** **Liver Function Tests (LFTs)** - LFTs may show elevated liver enzymes due to hemolysis, but they do not confirm the diagnosis of hereditary spherocytosis.
**Option C:** **Coomb's Test** - Coomb's test is used to detect antibodies or complement proteins attached to the surface of red blood cells. While it may be helpful in diagnosing other types of anemia, it is not the best investigation for hereditary spherocytosis.
**Option D:** **Bone Marrow Biopsy** - A bone marrow biopsy may be performed to rule out other causes of anemia, but it is not the best investigation for hereditary spherocytosis.
**Clinical Pearl / High-Yield Fact**
Hereditary spherocytosis is often associated with a family history of anemia, jaundice, and splenomegaly. Patients may also experience hemolytic crises triggered by infections, which can lead to acute anemia and jaundice.
**Correct Answer:** D. Bone Marrow Biopsy