Hb Jacksonville [α₂β²54(D5)Val→Asp]: A New Unstable Variant Found in a Patient with Hemolytic Anemia

Abstract

Hb Jacksonville was found in a 12-year-old Black male who was admitted to the hospital because of splenomegaly and anemia. Two weeks prior to admission he began having fever and vomiting. His liver and spleen were palpable 2 cm and 6 cm, respectively, below the costal margin. Hemoglobin (Hb) determination gave a value of 8 g/dl, the PCV was 0.24 1/1, and the MCV was 88 fl. The reticulocyte count was 19.1% and the haptoglobin value was less than 5 mg/dl (normal 27-139 mg/dl). Bilirubin was 0.1 mg/dl direct and 1.5 mg/dl total. The urine was brown and turbid, and was positive for protein, bilirubin, and Hb. Hepatic and renal function tests were normal. Past medical history revealed anemia (Hb 6.6 g/dl) discovered at age 1 during hospitalization for varicella encephalitis and coma. Hematologic findings, including Hb electrophoresis for his parents, appear normal. At present, physical examination of the patient shows a well-developed, well-nourished youth in good health who leads a full and active life. He now has normal blood counts and appears to have hemolytic anemia with intravascular hemolysis and hemoglobinuria only during infections.