Endocrine Abstracts

JOINT727

Background: Sickle cell/β-thalassemia (HbS/β-thal) is a rare hemoglobinopathy caused by compound heterozygosity for mutations in the β-globin gene. It encompasses two significant types: HbS/β⁰-thalassemia (complete absence of β-globin production) and HbS/β⁺-thalassemia (partial β-globin synthesis). The condition exhibits significant clinical heterogeneity, with an estimated global prevalence of 1.5% in regions with high rates of hemoglobinopathies.

Objective: This review aims to synthesize findings on the unique growth and endocrine alterations observed in patients with HbS/β-thal, emphasizing their relationship with disease severity and pathophysiological mechanisms.

Methods: A comprehensive table of findings from multiple studies focusing exclusively on HbS/β-thalassemia patients was reviewed, highlighting clinical and laboratory observations related to growth and endocrine dysfunction.

Results: 1. Growth Impairment:.

• Patients with HbS/β⁰-thal showed significantly lower body mass index (BMI) and higher malnutrition rates than HbS/β⁺-thal patients, with a strong correlation between BMI and hemoglobin levels.

• Bone mineral density (BMD) was notably reduced in HbS/β⁰ patients, reflecting heightened susceptibility to osteoporosis and osteopenia due to chronic hemolysis, inflammation, and endocrine disruption.

2. Endocrine Dysfunction:.

• HbS/β⁰ patients exhibited more profound hypogonadism, characterized by reduced levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), alongside poor gonadal response.

• Delayed puberty and reduced insulin-like growth factor-1 (IGF-1) levels were observed in both HbS/β⁰ and HbS/β⁺ patients, linked to iron overload and pituitary damage.

• HbS/β⁺ patients were more prone to acute chest syndrome, possibly due to elevated BMI and hemoglobin levels, which may exacerbate blood viscosity and complications.

Conclusion: The growth and endocrine alterations in HbS/β-thal patients are multifactorial, stemming from anemia, chronic inflammation, iron overload, and mutation severity. HbS/β⁰-thal patients typically experience more severe outcomes, with marked growth retardation, lower BMI, and extensive endocrine dysfunction. Early interventions, including chelation therapy and endocrine management, are critical to improving the quality of life and mitigating complications in these patients. Future research should explore individualized therapeutic approaches for these unique phenotypes. Table 1: Summary of HbS/β-Thalassemia Studies.