CORRELATION OF SERUM MYOGENIN WITH DISEASE SEVERITY IN SUBJECTS WITH SICKLE CELL DISEASE IN STEADY STATE

Abstract

Background: Sickle cell disease (SCD) is a hereditary haemoglobinopathy with a high prevalence in sub-Saharan Africa. It is characterised by chronic haemolysis, inflammation, and recurrent vaso-occlusive episodes that contribute to progressive organ dysfunction. Skeletal muscle involvement in SCD is increasingly recognised, yet the role of muscle regulatory factors such as myogenin, a key transcription factor involved in muscle differentiation and regeneration remains poorly understood.

Aim: This study aimed to evaluate the relationship between serum myogenin levels and disease severity in individuals with SCD in steady state, and to assess its association with anthropometric indices across different haemoglobin phenotypes.

Materials and Methods: This cross-sectional comparative study included 90 participants recruited using simple random sampling method: 30 HbSS patients in steady state, 30 HbAS individuals, and 30 HbAA controls, aged 10-50 years. Serum myogenin levels were measured using enzyme-linked immunosorbent assay (ELISA). Anthropometric parameters were assessed and body mass index (BMI) calculated. Disease severity in HbSS participants was evaluated using the Adegoke and Kuti sickle cell disease severity scoring system. Individuals with cardiovascular disease, inflammatory disorders, renal disease, obesity, pregnancy, or metabolic conditions were excluded. Statistical analyses included ANOVA and correlation testing to evaluate group differences and relationships between variables.

Results: HbSS participants had significantly lower BMI compared to HbAA and HbAS groups (p = 0.001), despite no significant difference in age across groups. However, serum myogenin levels did not differ significantly among HbAA, HbAS, and HbSS participants (p = 0.967). Correlation analysis showed no significant association between myogenin and BMI (r = 0.017, p = 0.931) or age (r = 0.003, p = 0.986), although BMI was strongly positively correlated with age (r = 0.801, p = 0.001). Notably, there was a statistically significant moderate inverse correlation between myogenin levels and disease severity in HbSS patients (r = –0.387, p = 0.035).

Conclusion: This study demonstrated that while individuals with SCD exhibit significant nutritional deficits, as reflected by reduced BMI, these do not directly influence circulating myogenin levels. The observed inverse relationship between myogenin and disease severity may suggest that myogenin may serve as a marker of disease-related muscle dysfunction rather than genotype or nutritional status.

Recommendations: Further longitudinal and mechanistic studies are needed to validate myogenin as a biomarker and explore its potential role in therapeutic strategies targeting muscle health in SCD.