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Updated: Aug 1, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Evaluation of Homocysteine Status and its Correlation with Disease Severity in Individuals with Sickle Cell Anaemia
N I Ugwu1, P O Manafa2, S E Agina2
1Department of Haematology and Immunology, Faculty of Basic Clinical Sciences, Ebonyi State University, Abakiliki, Ebonyi State, Nigeria.
Insights
Individuals with sickle cell anaemia (SCA) have higher homocysteine levels and lower BMI. Higher homocysteine correlated negatively with BMI, suggesting potential links to disease severity.
Area of Science:
- Hematology
- Biochemistry
- Genetics
Background:
- Sickle cell anaemia (SCA) is a genetic blood disorder characterized by chronic inflammation and a hypercoagulable state.
- Elevated homocysteine levels are implicated in various vascular and inflammatory conditions.
Purpose of the Study:
- To evaluate serum homocysteine levels in individuals with SCA during a steady state.
- To investigate the correlation between homocysteine levels, disease severity, and body mass index (BMI) in SCA patients.
Main Methods:
- A cross-sectional study involving 90 participants: 30 with homozygous sickle cell (HbSS, SCA), 30 with sickle cell trait (HbAS), and 30 with normal adult haemoglobin (HbAA).
- Serum homocysteine levels were quantified using the ELISA method.
- Disease severity and BMI were calculated, and data were analyzed using SPSS software.
Main Results:
- Mean serum homocysteine was significantly higher in HbSS individuals (26.2 ± 11.8 umol/l) compared to HbAA (17.9 ± 8.0 umol/l) and HbAS (18.9 ± 7.9 umol/l) (p<0.05).
- Mean BMI was significantly lower in HbSS individuals (21.9 ± 2.8 kg/m2) compared to HbAS (23.7 ± 2.5 kg/m2) and HbAA (24.7 ± 2.4 kg/m2) (p<0.05).
- A significant negative correlation was observed between homocysteine levels and BMI (r = -0.0258; p = 0.021), and between disease severity and BMI (r = -0.400; p = 0.028) in HbSS patients.
Conclusions:
- Individuals with HbSS exhibit elevated serum homocysteine and reduced BMI compared to controls.
- While the correlation between homocysteine and SCA disease severity was not statistically significant, a strong negative correlation with BMI was noted.
- Further large-scale studies are recommended to elucidate the relationship between homocysteine and SCA severity, and to explore potential benefits of vitamin supplementation.
Introduction:
Sickle cell anaemia (SCA) is a genetic disorder associated with chronic inflammation and a hypercoagulable state. This study evaluated the serum homocysteine level and its correlation with disease severity and body mass index (BMI) among individuals with SCA in a steady state.
Methods:
A cross-sectional study was carried out and the serum level of homocysteine was analysed using the ELISA method. Disease severity and BMI were also calculated. Data generated were analyzed using SPSS software, version 21.
Results:
Ninety subjects participated in this study and were made up of 30 homozygous sickle cell (HbSS, SCA) subjects, 30 individuals with sickle cell trait (HbAS), and 30 individuals with normal adult haemoglobin (HbAA) with a mean age of 27.3 ± 6.4years, 26.0 ± 6.0years, and 27.2 ± 6.6years respectively. The mean serum level of homocysteine among HbSS was 26.2 ± 11.8umol/l which was significantly higher than 17.9 ± 8.0umol/l and 18.9 ± 7.9umol/l among HbAA or HbAS respectively (p< 0.05). Mean BMI of 21.9 ± 2.8kg/m2 among HbSS was significantly lower than those of HbAS (23.7 ± 2.5kg/m2) and HbAA (24.7 ± 2.4kg/m2) (p<0.05). There was a positive correlation between homocysteine level and disease severity in patients with HbSS, though not significant (r = 0.168; p>0.05). There was a significant negative correlation between homocysteine level and BMI(r = -0.0258; p = 0.021); and between disease severity and BMI (r = -0.400; p = 0.028).
Conclusion:
Individuals with HbSS have significantly higher mean serum homocysteine level and lower BMI compared to HbAS and HbAA. There was a positive correlation between homocysteine level and disease severity, though not significant but a strong negative correlation between homocysteine levels and BMI, and between disease severity and BMI among HbSS participants. A similar study should be carried out on a wide scale to determine the actual relationship between homocysteine level and disease severity in SCA and whether patients will benefit from routine administration of vitamin B12, vitamin B6, and folic acid.
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