A 21 y

This is a female patient who was in her usual state of health until 3 months ago, when she developed low-grade intermittent fever, yellow discoloration of the eyes, dark-colored urine (without pale stools or pruritus), progressive exertional dyspnea, fatigue, generalized weakness, and numbness of both hands and feet. She was admitted to Social Security Hospital Jaranwala, where she was found to have severe anemia requiring 4 units of packed red blood cells. Despite transfusion, her symptoms recurred, and she again developed worsening fatigue and jaundice. On referral to our unit, her hemoglobin was 4.3 g/dL. On examination, she was pale, icteric, febrile (100°F), with mild hepatomegaly and splenomegaly. There was no focal neurological deficit, and Romberg's sign was negative, although she continued to complain of distal paresthesias. Investigations revealed Hb 4.3 g/dL, RBC count 1.3 × 10¹²/L, MCV 102 fL, MCH 33.5 pg, total bilirubin 7.1 mg/dL (direct 2.1mg/dL, indirect 6.1 mg/dL), LDH 720U/L, with normal ALT and ALP. The peripheral blood smear showed macrocytosis, while direct and indirect Coombs tests were negative. Ultrasound demonstrated mild hepatomegaly (17 cm) with prominent echogenic portal triads (starry-sky appearance) and mild splenomegaly.