Severe Transfusion-dependent Hereditary Spherocytosis Complicated by Acute Urinary Tract Infection, Gross Hematuria, and Hyperhemolytic Crisis in a 5-Year-Old Child: A Case Report

Background

Hereditary spherocytosis (HS) is an inherited heterogeneous haemolytic disorder caused by intrinsic defects in erythrocyte membrane cytoskeletal proteins, resulting in progressive spherocytic change, reduced membrane deformability, and splenic sequestration. Intercurrent infections may disrupt clinical compensation and precipitate an acute, life-threatening hyperhaemolytic crisis, characterised by a rapid fall in haemoglobin and signs of end-organ parenchymal injury, particularly in children with severe transfusion-dependent disease. Case Presentation: A 5-year-old girl with diagnosed severe transfusion-dependent hereditary spherocytosis, receiving regular maintenance packed red blood cell (PRBC) transfusions, presented with a 2-day history of high-grade spiking fever up to 101.4 °F (38.6 °C), upper respiratory tract symptoms, marked lethargy, dyspnoea, lower abdominal tenderness, and passage of red, turbid urine (gross haematuria). Investigations revealed decompensated hyperhaemolytic anaemia (Hb 5.3 g/dL, PCV 15.9%, RBC count 1.70 × 10⁶/µL, MCV 104.6 fL, and RDW 23.0%), active urinary sediment (RBCs 18–20/HPF, proteinuria 2+, alkaline urine pH 8.5), a normal renal profile (blood urea 24.1 mg/dL and serum creatinine 0.60 mg/dL), and no systemic bacteraemia on pre-antibiotic blood cultures. Abdominopelvic ultrasonography showed hepatomegaly (liver span 13.0 cm), splenomegaly (spleen 12.7 cm in length), and bilateral Grade I renal parenchymal changes with preserved corticomedullary differentiation. Early broad-spectrum intravenous antibiotic therapy (cefotaxime 150 mg/kg/day and amikacin 15 mg/kg/day), accompanied by furosemide-covered, volume-controlled PRBC infusion (15 mL/kg at 60 mL/hour), resulted in rapid defervescence, resolution of gross haematuria, improvement in urine microscopy, and post-infusion clinical stabilisation (Hb >9.5 g/dL).