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Bone marrow necrosis and fat embolism syndrome: a near fatal complication in previously undiagnosed sickle beta plus thalassaemia
Journal article   Open access   Peer reviewed

Bone marrow necrosis and fat embolism syndrome: a near fatal complication in previously undiagnosed sickle beta plus thalassaemia

Nibash Budhathoki, Sunita Timilsina, Bebu Ram and Douglas Marks
BMJ case reports, Vol.14(1), 238317
01/01/2021
DOI: 10.1136/bcr-2020-238317
PMCID: PMC7789434
PMID: 33408108

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Abstract

Prevalence of haemoglobin sickle-beta (+) thalassaemia (Hb S/beta +thal) is variable with geography ranging from 0.2% to 10% among sickle cell patients. Clinical presentation of Hb S/beta +thal patients depends on HbA level, with milder disease often going undiagnosed. However, rarely these patients can present with a fulminant vaso-occlusive crisis (VOC). Given VOC can present with non-specific symptoms, the diagnosis and treatment is often delayed. Here, we present a patient who initially developed altered mental status, pancytopenia and multiorgan failure due a critical VOC resulting in bone marrow necrosis and fat embolism. Subsequent workup confirmed that our patient had Sickle-beta (+) thalassaemia, which had gone undiagnosed, despite subclinical evidence of haemolysis on routine lab work for years. Following diagnosis and initiation of RBC exchange, he improved significantly and was discharged home. High index of suspicion and bone marrow biopsy is vital for early diagnosis and management of this rare condition.
General & Internal Medicine Life Sciences & Biomedicine Medicine, General & Internal Science & Technology

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