Alpha Thalassemia-Related Diabetic Nephropathy

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.

Comprehensive diagnostic evaluation included targeted laboratory investigations, renal imaging studies, percutaneous renal biopsy, and thalassemia genetic testing to elucidate etiological mechanisms.

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.

Refractory anemia with renal dysfunction requires thalassemia exclusion. The cause of renal injury in thalassemia needs to be confirmed by renal biopsy.