• Guangli Wang, Huiping Deng, Peng Peng, Haiqing Zheng, Baodong Tian, and Chunjiang Zhu.
• Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.
• Medicine (Baltimore). 2024 Mar 8; 103 (10): e37446e37446.

RationaleCompound heterozygotes for deletional β-thalassemia can be difficult to diagnose due to its diverse clinical presentations and no routine screenings. This can lead to disease progression and delay in treatment.Patient ConcernsWe reported pedigree analysis and genetic research in a family with rare β-thalassemia.DiagnosisPedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for β-thalassemia CD17/Southeast Asian hereditary persistence of fetal hemoglobin deletion, inherited from the parents. Magnetic resonance imaging T2* examination revealed severe iron deposition in the liver. Echocardiography revealed endocardial cushion defect.InterventionsThe patient was treated with Deferasirox after receiving the final molecular genetic diagnosis. The initial once-daily dose of Deferasirox was 20 mg/kg/d.OutcomesThe patient discontinued the medication three months after the first visit. Two years later, the patient visited the Department of Hepatobiliary and Pancreatic Diseases. He was recommended to undergo splenectomy after surgical repair of the congenital heart disease. However, the patient refused surgical treatment because of the economic burden.LessonsWe report that fetal hemoglobin is a sensitive indicator for screening large deletions of the β-globin gene, which can be effectively confirmed by the multiplex ligation-dependent probe amplification assay. In non-transfusion-dependent thalassemia patients, iron status assessment should be regularly performed, and iron chelation treatment should be initiated early. This case will provide insights for the diagnosis of rare genotypes of β-thalassemia and has important implications for genetic counseling.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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