Learning objectives
Review the pathology behind sickle cell disease (SCD),
with particular reference to the skeletal manifestations of the disease.
Outline the key skeletal manifestations of SCD,
providing an illustrated review of their imaging appearances across a range of imaging modalities.
Background
SCD is a hereditary haemoglobinopathy which results in the production of abnormal haemoglobin and which can manifest with a variety of skeletal pathologies.
SCD occurs due to an amino acid substitution within the beta globin gene in chromosome 11,
leading to the production of defective haemoglobin (HbS).
SCD occurs in individuals who are homozygous for HbS,
whereas heterozygous individuals possess a sickle cell trait (these individuals typically rarely develop skeletal pathology).
The production of abnormal haemoglobin in SCD results in the formation of abnormal distorted...
Imaging findings OR Procedure Details
As an institution with high rate of SCD in the local population,
we have access to a rich source of imaging,
including early manifestations,
appearances during treatment,
and late presentations.
An illustrated review of imaging appearances of skeletal manifestations of SCD,
with examples of common and important skeletal manifestations,
is therefore presented.
Persistence and expansion of intramedullary haematopoietic marrow
In normal physiology,
red marrow is present throughout the skeleton at birth,
with conversion to yellow fatty marrow occurring with age.
In normal adults,
red marrow...
Conclusion
SCD is a systemic disease arising from the production of abnormal red blood cells,
with multiple skeletal manifestations that occur through different pathological mechanisms,
some of which are closely similar in imaging findings.
Due to variation in morbidity and treatment of these disorders,
prompt and accurate diagnosis is necessary in order to facilitate appropriate and timely management.
A clear understanding of the imaging appearances of these presentations is therefore important in order to enable accurate diagnosis and management.
References
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Almeida A,
Roberts I.
Bone involvement in sickle cell disease.
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Ejindu VC,
Hine AL,
Mashayekhi M,
et al.
Musculoskeletal Manifestations of Sickle Cell Disease.
RadioGraphics 2007; 27: 1005-1021.
Smith JA.
Bone disorders in sickle cell disease.
Hematol Oncol Clin North Am 1996; 10: 1345–1356.
Karchevsky M,
Schweitzer ME,
Morrison WB,
et al.
MRI findings of septic arthritis and associated osteomyelitis in adults.
AJR Am J Roentgenol...
Personal Information
Christopher SW Tang is a second year Radiology trainee at Guy's and St Thomas' Hospital,
London,
UK.
Ramin Mandegaran is a fourth year Radiology trainee at Guy's and St Thomas' Hospital,
London,
UK.
Ali Zavareh is a Consultant Radiologist at Guy's and St Thomas' Hospital,
London,
UK.