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Published on: June 26, 2018
Autoimmune disease and sickle cell anaemia: 'Intersecting pathways and differential diagnosis'
Andrea Piccin1,2,3, Niamh O'Connor-Byrne4, Massimo Daves5
1Northern Ireland Blood Transfusion Service, Belfast, UK.
Insights
Sickle cell disease (SCD) and autoimmune diseases (AD) share overlapping symptoms, complicating diagnosis. This review guides physicians in differentiating SCD from AD for timely and appropriate treatment.
Area of Science:
- Hematology
- Rheumatology
- Genetics
Background:
- Sickle cell disease (SCD) is an inherited, multisystemic disorder affecting millions globally.
- SCD's musculoskeletal manifestations can mimic autoimmune diseases (AD), causing diagnostic challenges.
- Misdiagnosis delays treatment and can lead to suboptimal patient care.
Purpose of the Study:
- To review and differentiate clinical and laboratory findings of SCD and AD.
- To guide hematologists and physicians in distinguishing AD in sickle cell anemia patients.
- To facilitate earlier and more accurate diagnosis of AD in SCD patients.
Main Methods:
- Comprehensive literature review of SCD and AD.
- Analysis of clinical features and laboratory results for differentiation.
- Focus on distinguishing SCD from systemic lupus erythematosus and rheumatoid arthritis.
Main Results:
- Identification of key clinical and laboratory features distinguishing SCD from AD.
- Highlighting the importance of accurate interpretation of diagnostic assessments.
- Providing a framework for differential diagnosis in complex cases.
Conclusions:
- Accurate knowledge of AD and SCD presentations is crucial for differential diagnosis.
- Distinguishing AD in SCD patients requires careful evaluation of specific clinical and lab data.
- This review aims to improve diagnostic accuracy and patient management.
Abstract:
Sickle cell disease (SCD) is an inherited disorder, which occurs due to a single gene mutation. It has multisystemic manifestations, affecting millions of people worldwide. The effect of SCD on joints and musculature can overlap with clinical features of autoimmune disease (AD). It is therefore difficult for clinical haematologists and physicians treating SCD patients to discriminate between these two conditions clinically. A delay in diagnosis leads to untreated symptoms and treatment differs considerably. An accurate knowledge of clinical findings and laboratory results of AD and SCD can help physicians avoid this. In the review that follows, we examine the existing literature on SCD and AD, and describe the features that may distinguish SCD and autoimmune disease such as systemic lupus erythematosus and rheumatoid arthritis. We aim to guide clinical haematologists and physicians towards a more rapid diagnosis of AD in sickle cell anaemia patients, by correct interpretation of the clinical assessment and commonly available diagnostics.
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