Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and α0-Thalassemia

Background: -thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent inheritance in non-consanguineous populations. Co-inheritance of both conditions has not been previously reported. Case presentation: : -SEA/αα), explaining the hematological phenotype. Outcome: -thalassemia trait is asymptomatic and requires no intervention; its diagnosis avoided unnecessary iron therapy and the associated risk of iron overload. Long-term follow-up will focus on renal function, proteinuria, lipid profile, and ocular findings. Genetic counseling will also be provided to the patient and their family. Conclusion: -thalassemia confirmed by both renal pathology and comprehensive genetic testing. The consanguineous background suggests possible co-transmission of distant recessive variants on the same chromosome. This case highlights the importance of considering coexisting genetic disorders in patients with consanguinity or unexplained multisystem involvement.