Keywords:
Haematologic diseases, Diagnostic procedure, Ultrasound, Plain radiographic studies, MR, Musculoskeletal joint, Musculoskeletal bone, Haematologic
Authors:
C. S. W. Tang, R. Mandegaran, A. Zavareh; London/UK
DOI:
10.1594/essr2017/P-0236
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 red blood cells.
These abnormal red blood cells can cause variable physiological disturbances including: [1] chronic anaemia,
[2] immunosuppression,
[3] abnormal blood flow,
and [4] vaso-occlusion.
It is a combination of these processes that underlies the skeletal pathologies associated with SCD; these include expansion of intramedullary haematopoietic marrow,
bone infarction and avascular necrosis,
and infections including septic arthritis and osteomyelitis.
These pathologies occur throughout the skeleton,
resulting in many different radiological appearances.
Given that these presentations differ in their morbidity and treatment,
an accurate diagnosis is necessary in order to direct appropriate management.