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Background: Thalassemia, an autosomal recessive hematologic disorder, causes renal dysfunction via chronic hypoxia, anemia, iron overload, and iron chelating agents. This case showed severe tubulointerstitial lesions with diabetic nephropathy.
Methods: Comprehensive diagnostic evaluation included targeted laboratory investigations, renal imaging studies, percutaneous renal biopsy, and thalassemia genetic testing to elucidate etiological mechanisms.
Results: Laboratory findings confirmed microcytic hypochromic anemia with renal impairment. Imaging studies revealed pulmonary embolism, splenomegaly, and lower extremity deep vein thrombosis. Genetic analysis identified α-thalassemia. Renal histopathology demonstrated stage III diabetic nephropathy with severe tubulointerstitial fibrosis and tubular atrophy.
Conclusions: Refractory anemia with renal dysfunction requires thalassemia exclusion. The cause of renal injury in thalassemia needs to be confirmed by renal biopsy.
DOI: 10.7754/Clin.Lab.2025.250742
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