BÁO CÁO CA BỆNH THIẾU MÁU TAN MÁU BẨM SINH DO ĐỘT BIẾN SLC4A1 VÀ KCNN4

Abstract

Objective: Chronic hemolytic anemia beginning in the neonatal period remains a diagnostic challenge, especially in patients with long-term transfusion dependence and overlapping immunological findings. We report a 17-year-old male patient with severe neonatal jaundice requiring exchange transfusion at 5 days of age, followed by regular blood transfusions for many years. Re-evaluation showed jaundice, dark urine, hepatosplenomegaly, hemolytic anemia with increased indirect bilirubin and lactate dehydrogenase levels, markedly decreased haptoglobin, and marked erythroid hyperplasia in the bone marrow. The direct antiglobulin test was weakly positive, and antinuclear and antiphospholipid antibodies were detected; however, the patient did not fulfill diagnostic criteria for systemic lupus erythematosus. Whole-genome sequencing identified heterozygous variants in SLC4A1 and KCNN4, genes associated with hereditary red blood cell membrane disorders. A diagnosis of congenital hemolytic anemia due to red cell membrane abnormalities was established. Splenectomy was indicated because of severe chronic hemolysis, long-term transfusion dependence, and hypersplenism. This case highlights the importance of genetic testing in patients with unexplained chronic hemolytic anemia and atypical immune findings.