G6PD Deficiency vs Hereditary Spherocytosis
G6PD Deficiency and Hereditary Spherocytosis are easy to mix up on the boards. Here's a side-by-side comparison — presentation, workup, imaging, and first-line treatment — drawn from our full outlines.
G6PD Deficiency vs Hereditary Spherocytosis at a glance
- G6PD Deficiency: X-linked enzyme deficiency causing episodic oxidative hemolysis in response to drugs, infection, or fava beans.
- Hereditary Spherocytosis: Inherited red cell membrane defect producing spherocytes, hemolysis, splenomegaly, and jaundice.
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Side-by-side comparison
| Feature | G6PD Deficiency | Hereditary Spherocytosis |
|---|---|---|
| At a glance | X-linked enzyme deficiency causing episodic oxidative hemolysis in response to drugs, infection, or fava beans. | Inherited red cell membrane defect producing spherocytes, hemolysis, splenomegaly, and jaundice. |
| Classic presentation | Dark urine and jaundice 1-3 days after starting TMP-SMX (or dapsone, or fava bean ingestion) in a young man of African or Mediterranean descent.; Acute hemolytic episode 24-72 hours after oxidant exposure: dark/cola-colored urine (hemoglobinuria), back/abdominal pain, jaundice, fatigue, dyspnea; Neonatal jaundice — especially… | Triad of hemolytic anemia, jaundice, and splenomegaly with spherocytes on peripheral smear and a negative Coombs test.; Neonatal jaundice often requiring phototherapy or exchange transfusion; Fatigue, pallor, exertional dyspnea from chronic anemia; Intermittent scleral icterus, dark urine during hemolytic episodes; Right upper quadrant… |
| Workup / key labs | Low quantitative G6PD enzyme activity in a stable patient (away from acute hemolytic episode). Newborn screening available in many states.; CBC — normocytic anemia, reticulocytosis (peaks ~7 days after trigger); Peripheral smear — bite cells (membrane removed by splenic macrophages around denatured Hb), blister cells, Heinz bodies… | Hemolytic anemia + spherocytes + negative DAT + family history OR positive EMA binding test. Genetic testing reserved for atypical/severe or recessive cases.; CBC — normocytic or mildly microcytic anemia with elevated MCHC (>36 g/dL is highly suggestive); Reticulocyte count — elevated; Peripheral smear — spherocytes lacking central… |
| Imaging | Not routinely indicated | Abdominal ultrasound — splenomegaly; screen for cholelithiasis in adolescents and adults |
| First-line treatment | Acute hemolysis: identify and remove offending agent immediately; Supportive care — IV fluids to maintain renal perfusion and clear hemoglobinuria; Transfusion for severe symptomatic anemia or hemodynamic instability; Prevention is primary: educate patient about drugs and foods to avoid; provide list of contraindicated medications;… | Folic acid supplementation (1 mg daily) in moderate-to-severe disease to support compensatory erythropoiesis; Transfusion support for severe anemia or aplastic crisis; Phototherapy or exchange transfusion for severe neonatal hyperbilirubinemia |
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