Current Medicine Research and Practice

: 2021  |  Volume : 11  |  Issue : 5  |  Page : 248--249

Radiological manifestations of thalassaemia

KK Saxena, Shelly Sharma 
 Department of Radiology, Sir Ganga Ram Hospital, New Delhi, India

Correspondence Address:
K K Saxena
Department of Radiology, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi - 110 060

How to cite this article:
Saxena K K, Sharma S. Radiological manifestations of thalassaemia.Curr Med Res Pract 2021;11:248-249

How to cite this URL:
Saxena K K, Sharma S. Radiological manifestations of thalassaemia. Curr Med Res Pract [serial online] 2021 [cited 2022 Jan 16 ];11:248-249
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Thalassaemia is an inherited, multisystem disorder with the highest prevalence in the Mediterranean countries. Beta-globin chain synthesis may be absent or reduced, resulting in thalassaemia major (homozygotes) or thalassaemia intermedia (heterozygotes). The abnormal synthesis of globin chain leads to anaemia, organomegaly and extra-medullary haematopoiesis, with resultant secondary skeletal deformity. Treatment consists of regular blood transfusions to maintain normal haemoglobin levels along with iron-chelating agents such as desferrioxamine (DFX) to prevent the iron overload-accompanying–repeated transfusions. Bisphosphonates are also given to treat coexisting osteoporosis. Radiological changes are caused by medullary expansion as well as by use of therapeutic agents, such as DFX. Skeletal changes when due to DFX may require a reduction in dose or change to another chelator.

 Skeletal Manifestations of Thalassaemia

Skeletal changes in untreated thalassaemia are unusual before 6 months of age and are usually seen above 1 year of age; these can affect every part of the skeleton.

The ribs may show expansion of posterior elements along with adjacent paraspinal extra-medullary haematopoiesis. A 'rib-within-a-rib' appearance may also result from marrow extending longitudinally within the cortex [Figure 1]a and [Figure 1]b.{Figure 1}

Generalised osteoporosis and osteopenia are features of thalassaemia, seen in many patients despite optimal treatment with transfusion, chelation and bisphosphonates. The expanded bone marrow with trabecular coarsening results in the appearance of 'cob-webbing' [Figure 2] and [Figure 3]. The long bones may have growth arrest and recovery lines in untreated patients. The femora may develop a flask-like shape. Bone infarcts, a rare complication, may also be seen [Figure 2].{Figure 2}{Figure 3}

DFX can have an affect on the growth plates of young thalassaemic patients, resulting in radiological changes, such as generalised growth retardation and dysplastic changes in distal ulna [Figure 3]. Both these changes can be monitored by an annual hand radiograph.

The vertebral bodies may become biconcave and lose height, secondary to multiple compression fractures [Figure 4]. In extreme cases, spinal cord compression can occur. Scoliosis is also more common in thalassaemic patients in comparison with the general population.{Figure 4}

Hypertransfused patients with raised serum ferritin demonstrate iron deposition in the skeleton, resulting in the bone marrow that is hypointense to muscle on all sequences [Figure 5].{Figure 5}

Marrow hyperplasia in the facial and skull bones reduces pneumatisation of the sinuses with absent paranasal and frontal sinuses and more solid mastoids. Within the skull, increased haematopoiesis causes diploic space widening with thinning of the outer table and thickening of the inner table. 'Hair-on-end' appearance is seen in the skull predominantly in the frontal region [Figure 6].{Figure 6}

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