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Updated: Jun 23, 2025
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
The clinical spectrum of HbSC sickle cell disease-not a benign condition
M Nelson1, L Noisette2, N Pugh3
1Division of Hematology/Center for Sickle Cell Disease, Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Insights
Sickle cell disease (SCD) HbSC is more severe than previously thought. This study found higher rates of complications like splenomegaly and retinopathy in HbSC patients compared to sickle cell anemia (SCA).
Area of Science:
- Hematology
- Genetics
- Public Health
Background:
- Sickle cell disease (SCD) encompasses various disorders with significant morbidity.
- HbSC disease, the second most common SCD type, is often underestimated in severity.
- Previous research has insufficiently studied HbSC disease, categorizing it as milder than sickle cell anemia (HbSS).
Purpose of the Study:
- To evaluate the clinical severity and prevalence of complications in HbSC disease.
- To compare the frequency of morbidities in HbSC disease versus sickle cell anemia (SCA).
- To highlight the need for further research and targeted treatments for HbSC disease.
Main Methods:
- Analysis of data from the NHLBI funded Sickle Cell Disease Implementation Consortium (SCDIC) registry.
- Inclusion of 2282 individuals with SCD, aged 15-45 years.
- Comparison of clinical outcomes between 502 individuals with HbSC disease and those with SCA.
Main Results:
- HbSC disease patients exhibited higher frequencies of splenomegaly (33.7%) and retinopathy (23.1%) compared to SCA patients.
- Significant rates of avascular necrosis (22.3%), pulmonary embolism (8.6%), and acute chest syndrome (45.4%) were observed in HbSC disease.
- These findings indicate a substantial disease burden in individuals with HbSC disease.
Conclusions:
- HbSC disease is clinically more severe than previously recognized.
- The study underscores the need for enhanced evaluation and tailored therapeutic strategies for HbSC disease.
- Further research is warranted to fully understand and manage HbSC disease complications.
Abstract:
Sickle cell disease (SCD) includes a group of heterogenous disorders that result in significant morbidities. HbSS is the most common type of SCD and HbSC is the second most common type of SCD. The prevalence of HbSC disease in the United States and United Kingdom is ~1 in 7174 births and 1 in 6174 births respectively. Despite its frequency, however, HbSC disease has been insufficiently studied and was historically categorized as a more 'mild' form of SCD. We conducted this study of HbSC disease as part of the NHLBI funded Sickle Cell Disease Implementation Consortium (SCDIC). The SCDIC registry included 2282 individuals with SCD, ages 15-45 years of whom 502 (22%) had HbSC disease. Compared with people with sickle cell anaemia (SCA), the study found that people with HbSC disease had a higher frequency of splenomegaly (n (%) = 169 (33.7) vs. 392 (22.1)) and retinopathy (n (%) = 116 (23.1) vs. 189 (10.6)). A Many people with HbSC also had avascular necrosis (n (%) = 112 (22.3)), pulmonary embolism (n (%) = 43 (8.6)) and acute chest syndrome (n (%) = 228 (45.4)) demonstrating significant disease severity. HbSC disease is more clinically severe than was previously recognized and deserves additional evaluation and targeted treatments.
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