MediAI

Edited by ScholarGen MediAI Team Executive Clinical Summary A patient with severe transfusion-dependent β-thalassemia major presented with bilateral ankle pain, swelling, and restricted joint motion after years of regular transfusion therapy and iron chelation. Laboratory testing showed a hemoglobin level of 8.3 g/dL, with an MCV of 81.3 and an RDW of 26.7%. The patient had required regular red blood cell transfusions since infancy and iron chelation since childhood. The right tibia and fibula radiograph demonstrated a characteristic combination of expanded medullary cavities, cortical thinning, and coarse trabecular architecture . In the clinical setting of severe β-thalassemia major, this pattern strongly supports marrow hyperplasia (marrow expansion) related to chronic ineffective erythropoiesis. The imaging finding, however, should not be interpreted in isolation. Skeletal complications in β-thalassemia are multifactorial. Marrow expansion may coexist with osteopenia, osteoporosis...

  Keywords: Plasmacytoma, Solitary Plasmacytoma, Extramedullary Plasmacytoma, Skull Tumor, Plasma Cell Neoplasm, CT Imaging, Cranial Mass, Oncology, Radiology, Hematologic Malignancy   Abstract Plasmacytoma is a rare plasma cell neoplasm characterized by monoclonal proliferation of terminally differentiated B lymphocytes. Unlike multiple myeloma, plasmacytoma typically presents as a solitary mass in bone or soft tissue. This article provides an in-depth expert-level review of plasmacytoma, incorporating pathophysiology, epidemiology, clinical manifestations, advanced imaging characteristics, differential diagnosis, diagnostic strategies, therapeutic approaches, and prognosis. A representative case involving a painless scalp mass with destructive cranial involvement is presented, accompanied by radiologic interpretation and surgical management insights. Finally, clinical quiz questions and evidence-based references are included to enhance understanding and knowledge retent...

Keywords: Beta-thalassemia , thalassemia imaging features , hemoglobinopathy diagnosis , bone marrow expansion radiology , iron overload MRI , thalassemia treatment , prognosis of beta-thalassemia Introduction Beta-thalassemia is a hereditary, quantitative hemoglobin disorder resulting from mutations in the beta (β)-globin gene , leading to reduced or absent synthesis of β-globin chains and consequent ineffective erythropoiesis, chronic anemia, and compensatory bone marrow expansion. This condition represents one of the most common monogenic diseases globally with high carrier prevalence in populations historically exposed to malaria (Mediterranean, Middle Eastern, South and Southeast Asia). Pathophysiology of Beta-Thalassemia Beta-thalassemia is caused by mutations in the HBB gene on chromosome 11 that impair β-globin production. These may include point mutations affecting transcription, splicing, or translation of the gene. The degree of β-globin deficien...