RESUMEN
INTRODUCTION: Fetal hemoglobin (HbF) is the predominant hemoglobin in red cells during fetal life. Just after birth, the level of HbF decreases gradually to <1%, and is replaced mainly by adult hemoglobin (HbA) (â¼ 97%). However, higher HbF levels could be associated with HbE/ß-thalassemia, a complex thalassemia intermedia with a diverse clinical severity ranging from mild-to-severe anemia. This study investigates the correlation of HbF level with the clinical and laboratory data of HbE/ß-thalassemia individuals. METHODS: Peripheral blood samples from 30 HbE/ß-thalassemia subjects were subjected to a full blood count, genomic as well as quantitative real-time polymerase chain reaction gene expression studies. Statistical analyses were performed using SPSS 17.0. RESULTS: HbF levels were influenced by age, mean cell volume (MCV), mean cell hemoglobin (MCH), HbA, ß-globin, and α/ß-globin expressions. DISCUSSION: HbF production is affected by the α/ß-globin chain imbalance due to the lack of ß-globin gene expression as well as inversely correlates to the amount of functional hemoglobin available in the cells.
Asunto(s)
Hemoglobina Fetal/genética , Hemoglobina E/genética , Talasemia beta/sangre , Adolescente , Adulto , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
The alpha haemoglobin stabilising protein (AHSP) acts as a molecular chaperone for α-globin by stabilising nascent α-globin before transferring it to waiting free ß-globin chains. Binding of AHSP to α-globin renders α-globin chemically inert whereby preventing it from precipitating and forming reactive oxygen species byproducts. The AHSP has been actively studied in the recent years, particularly in its relation to ß-thalassaemia. Studies have shown that AHSP is a modifier in ß-thalassaemia mice models. However, this relationship is less established in humans. Studies by some groups showed no correlation between the AHSP haplotypes and the severity of ß-thalassaemia, whereas others have shown that certain AHSP haplotype could modify the phenotype of ß-thalassaemia intermedia patients. We investigated the expression of AHSP in relation to selected demographic data, full blood count, HPLC results, HbE/ß-thalassaemia genotype, Xmn-1 Gγ polymorphism, α-globin, ß-globin and γ-globin expression. We found that AHSP expression was significantly correlated to mean cell haemoglobin level, HbF %, α-globin, ß-globin and excess α-globin expression. We concluded that AHSP could be a secondary compensatory mechanism in red blood cells to counterbalance the excess α-globin chains in HbE/ß-thalassaemia individuals.