Hemoglobinopathy resulting in ↑ RBC destruction and ↑ marrow production of RBCs
3 clinical and hematologic conditions of increasing severity recognized
β-thalassemia carrier state
Heterozygosity for β-thalassemia
Clinically asymptomatic; defined by hematologic 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
Hajimoradi M et al: Musculoskeletal imaging manifestations of beta-thalassemia. Skeletal Radiol. 50(9):1749-62, 2021
Gaudio A et al: Pathogenesis of thalassemia major-associated osteoporosis: a review with insights from clinical experience J Clin Res Pediatr Endocrinol. 11(2):110-7, 2019
De Sanctis V et al: Bone disease in β thalassemia patients: past, present and future perspectives. Metabolism. 80:66-79, 2018
Noureldine MHA et al: Rheumatological complications of beta-thalassaemia: an overview. Rheumatology (Oxford). 57(1):19-27, 2018
Inati A et al: Endocrine and bone complications in β-thalassemia intermedia: current understanding and treatment. Biomed Res Int. 2015:813098, 2015
Wood JC: Estimating tissue iron burden: current status and future prospects. Br J Haematol. 170(1):15-28, 2015
Orphanidou-Vlachou E et al: Extramedullary hemopoiesis. Semin Ultrasound CT MR. 35(3):255-62, 2014
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
Cao A et al: Beta-thalassemia. Genet Med. 12(2):61-76, 2010
Chakraborty I et al: Non-haem iron-mediated oxidative stress in haemoglobin E beta-thalassaemia. Ann Acad Med Singapore. 39(1):13-6, 2010
Cunningham MJ: Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 24(1):215-27, 2010
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
Chand G et al: Deferiprone-induced arthropathy in thalassemia: MRI findings in a case. Indian J Radiol Imaging. 19(2):155-7, 2009
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
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
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
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
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
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
Hemoglobinopathy resulting in ↑ RBC destruction and ↑ marrow production of RBCs
3 clinical and hematologic conditions of increasing severity recognized
β-thalassemia carrier state
Heterozygosity for β-thalassemia
Clinically asymptomatic; defined by hematologic 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
Hajimoradi M et al: Musculoskeletal imaging manifestations of beta-thalassemia. Skeletal Radiol. 50(9):1749-62, 2021
Gaudio A et al: Pathogenesis of thalassemia major-associated osteoporosis: a review with insights from clinical experience J Clin Res Pediatr Endocrinol. 11(2):110-7, 2019
De Sanctis V et al: Bone disease in β thalassemia patients: past, present and future perspectives. Metabolism. 80:66-79, 2018
Noureldine MHA et al: Rheumatological complications of beta-thalassaemia: an overview. Rheumatology (Oxford). 57(1):19-27, 2018
Inati A et al: Endocrine and bone complications in β-thalassemia intermedia: current understanding and treatment. Biomed Res Int. 2015:813098, 2015
Wood JC: Estimating tissue iron burden: current status and future prospects. Br J Haematol. 170(1):15-28, 2015
Orphanidou-Vlachou E et al: Extramedullary hemopoiesis. Semin Ultrasound CT MR. 35(3):255-62, 2014
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
Cao A et al: Beta-thalassemia. Genet Med. 12(2):61-76, 2010
Chakraborty I et al: Non-haem iron-mediated oxidative stress in haemoglobin E beta-thalassaemia. Ann Acad Med Singapore. 39(1):13-6, 2010
Cunningham MJ: Update on thalassemia: clinical care and complications. Hematol Oncol Clin North Am. 24(1):215-27, 2010
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
Chand G et al: Deferiprone-induced arthropathy in thalassemia: MRI findings in a case. Indian J Radiol Imaging. 19(2):155-7, 2009
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
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
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
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
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
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
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