Assessment of alpha hemoglobin stabilizing protein gene expression in relation to hematological parameters in Iraqi patients with beta-thalassemia syndrome

BACKGROUND: Beta-thalassemia syndromes are inherited disorders marked by reduced beta-globin production, leading to excess free α-globin chains that cause ineffective red blood cell production, anemia, and oxidative stress. The heterozygous (trait) form causes mild anemia, while the homozygous form leads to severe, transfusion-dependent anemia. Genetic modifiers such as α-globin mutations and hereditary persistence of fetal hemoglobin (HPFH) can reduce disease severity by balancing globin chains. Alpha hemoglobin (Hb) stabilizing protein ( AHSP ) plays a protective role by binding free α-globin, preventing its toxic effects. This chaperone function helps mitigate damage in conditions like β-thalassemia. OBJECTIVES: The aims of this study were to evaluate AHSP gene expression in patients with beta-thalassemia syndrome and correlate its expression with hematological parameters. MATERIALS AND METHODS: Thirty-five beta-thalassemic pediatric patients’ leftover samples were collected from thalassemia center in Baghdad/Iraq. The patients randomly selected regarding sex. Twenty control leftover samples were collected from Al-Kadhimiya pediatric hospital, who were age and sex matched with the patient’s group. AHSP mRNA of 35 patients, patients with beta-thalassemia major (β-TM) included 18 patients and 17 patients with beta-thalassemia intermedia, and 20 normal controls were measured using real-time reverse transcription-polymerase chain reaction (qRT-PCR). AHSP RNA of each sample was calculated by relative quantification using the equation of folding = 2 − ΔΔ CT . ΔΔCT = ΔCT Treated − ΔCT Control. RESULTS: There was a statistical difference found between the control and patients with beta-thalassemia syndrome regarding hematological parameters and AHSP gene expression and a highly significant difference between β-TM and intermedia regarding complete blood count finding, duration of blood transfusion, and high-performance liquid chromatography finding, while there was no statistical difference regarding AHSP gene expression that was seen between those two groups. CONCLUSION: The expression level of the AHSP gene was elevated in thalassemic individuals compared to the healthy control, and it was higher in patients with the BI group than thalassemia major group.