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Thalassemia
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Thalassemia major (TM)
          • Synonyms

            • β-thalassemia major, Cooley anemia, Mediterranean anemia, hereditary leptocytosis, erythroblastic anemia
          • Definitions

            • Hemoglobinopathy resulting in ↑ red blood cell (RBC) destruction and ↑ marrow production of RBCs
            • 3 clinical and hematological conditions of increasing severity recognized
              • β-thalassemia carrier state
                • Heterozygosity for β-thalassemia
                • Clinically asymptomatic; defined by hematological features
              • Thalassemia intermedia
                • Clinically and genotypically heterogeneous group of thalassemia-like disorders
                • Ranges from asymptomatic carrier to severe transfusion-dependent type
              • TM
                • Severe transfusion-dependent anemia
                • Anemia-related and treatment-related musculoskeletal abnormalities

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. Inati A et al: Endocrine and bone complications in β-thalassemia intermedia: current understanding and treatment. Biomed Res Int. 2015:813098, 2015
                                  2. Wood JC: Estimating tissue iron burden: current status and future prospects. Br J Haematol. ePub, 2015
                                  3. Orphanidou-Vlachou E et al: Extramedullary hemopoiesis. Semin Ultrasound CT MR. 35(3):255-62, 2014
                                  4. Aypar E et al: The efficacy of tissue Doppler imaging in predicting myocardial iron load in patients with beta-thalassemia major: correlation with T2* cardiovascular magnetic resonance. Int J Cardiovasc Imaging. 26(4):413-21, 2010
                                  5. Cao A et al: Beta-thalassemia. Genet Med. 12(2):61-76, 2010
                                  6. Chakraborty I et al: Non-haem iron-mediated oxidative stress in haemoglobin E beta-thalassaemia. Ann Acad Med Singapore. 39(1):13-6, 2010
                                  7. Cunningham MJ: Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 24(1):215-27, 2010
                                  8. Rose C et al: Does iron chelation therapy improve survival in regularly transfused lower risk MDS patients? A multicenter study by the GFM (Groupe Francophone des Myélodysplasies). Leuk Res. 34(7):864-70, 2010
                                  9. Chand G et al: Deferiprone-induced arthropathy in thalassemia: MRI findings in a case. Indian J Radiol Imaging. 19(2):155-7, 2009
                                  10. Chouliaras G et al: Cardiac related death in thalassaemia major: time trend and risk factors in a large Greek Unit. Eur J Haematol. 82(5):381-7, 2009
                                  11. Rasekhi AR et al: Radiofrequency ablation of the spleen in patients with thalassemia intermedia: a pilot study. AJR Am J Roentgenol. 192(5):1425-9, 2009
                                  12. De Sanctis V et al: Mild subclinical hypothyroidism in thalassaemia major: prevalence, multigated radionuclide test, clinical and laboratory long-term follow-up study. Pediatr Endocrinol Rev. 6 Suppl 1:174-80, 2008
                                  13. Wood JC et al: Magnetic resonance imaging assessment of excess iron in thalassemia, sickle cell disease and other iron overload diseases. Hemoglobin. 32(1-2):85-96, 2008
                                  14. Kellenberger CJ et al: Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with beta-thalassemia. AJR Am J Roentgenol. 183(4):989-94, 2004
                                  15. Chan Y et al: Deferoxamine-induced bone dysplasia in the distal femur and patella of pediatric patients and young adults: MR imaging appearance. AJR Am J Roentgenol. 175(6):1561-6, 2000
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Pathology

                                        • Clinical Issues

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Thalassemia major (TM)
                                          • Synonyms

                                            • β-thalassemia major, Cooley anemia, Mediterranean anemia, hereditary leptocytosis, erythroblastic anemia
                                          • Definitions

                                            • Hemoglobinopathy resulting in ↑ red blood cell (RBC) destruction and ↑ marrow production of RBCs
                                            • 3 clinical and hematological conditions of increasing severity recognized
                                              • β-thalassemia carrier state
                                                • Heterozygosity for β-thalassemia
                                                • Clinically asymptomatic; defined by hematological features
                                              • Thalassemia intermedia
                                                • Clinically and genotypically heterogeneous group of thalassemia-like disorders
                                                • Ranges from asymptomatic carrier to severe transfusion-dependent type
                                              • TM
                                                • Severe transfusion-dependent anemia
                                                • Anemia-related and treatment-related musculoskeletal abnormalities

                                          IMAGING

                                          • General Features

                                            • Radiographic Findings

                                              • CT Findings

                                                • MR Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Gross Pathologic & Surgical Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. Inati A et al: Endocrine and bone complications in β-thalassemia intermedia: current understanding and treatment. Biomed Res Int. 2015:813098, 2015
                                                                  2. Wood JC: Estimating tissue iron burden: current status and future prospects. Br J Haematol. ePub, 2015
                                                                  3. Orphanidou-Vlachou E et al: Extramedullary hemopoiesis. Semin Ultrasound CT MR. 35(3):255-62, 2014
                                                                  4. Aypar E et al: The efficacy of tissue Doppler imaging in predicting myocardial iron load in patients with beta-thalassemia major: correlation with T2* cardiovascular magnetic resonance. Int J Cardiovasc Imaging. 26(4):413-21, 2010
                                                                  5. Cao A et al: Beta-thalassemia. Genet Med. 12(2):61-76, 2010
                                                                  6. Chakraborty I et al: Non-haem iron-mediated oxidative stress in haemoglobin E beta-thalassaemia. Ann Acad Med Singapore. 39(1):13-6, 2010
                                                                  7. Cunningham MJ: Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 24(1):215-27, 2010
                                                                  8. Rose C et al: Does iron chelation therapy improve survival in regularly transfused lower risk MDS patients? A multicenter study by the GFM (Groupe Francophone des Myélodysplasies). Leuk Res. 34(7):864-70, 2010
                                                                  9. Chand G et al: Deferiprone-induced arthropathy in thalassemia: MRI findings in a case. Indian J Radiol Imaging. 19(2):155-7, 2009
                                                                  10. Chouliaras G et al: Cardiac related death in thalassaemia major: time trend and risk factors in a large Greek Unit. Eur J Haematol. 82(5):381-7, 2009
                                                                  11. Rasekhi AR et al: Radiofrequency ablation of the spleen in patients with thalassemia intermedia: a pilot study. AJR Am J Roentgenol. 192(5):1425-9, 2009
                                                                  12. De Sanctis V et al: Mild subclinical hypothyroidism in thalassaemia major: prevalence, multigated radionuclide test, clinical and laboratory long-term follow-up study. Pediatr Endocrinol Rev. 6 Suppl 1:174-80, 2008
                                                                  13. Wood JC et al: Magnetic resonance imaging assessment of excess iron in thalassemia, sickle cell disease and other iron overload diseases. Hemoglobin. 32(1-2):85-96, 2008
                                                                  14. Kellenberger CJ et al: Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with beta-thalassemia. AJR Am J Roentgenol. 183(4):989-94, 2004
                                                                  15. Chan Y et al: Deferoxamine-induced bone dysplasia in the distal femur and patella of pediatric patients and young adults: MR imaging appearance. AJR Am J Roentgenol. 175(6):1561-6, 2000