Pediatric hemoglobinopathies: from the bench to the bedside

The beta-chain hemoglobinopathies affect the beta-globin gene on chromosome 11 and comprise some of the most prevalent genetic disorders in humans, including sickle cell disease (SCD) and beta-thalassemia. The mutations associated with these diseases cause various symptoms and degrees of severity. Extensive research has sought to identify physiologic and genetic factors responsible for these variations, including the role of fetal hemoglobin (HbF) and its importance in the alleviation of symptoms. This chapter on the genomics of hemoglobinopathies addresses the interests of both the researcher and the caregiver. The pathophysiology of SCD and thalassemia are reviewed, as well as the state of the science on the regulation of HbF, including newly identified quantitative trait loci (QTLs), single nucleotide polymorphisms (SNPs), and suggested genetic mechanisms. Studies on the current therapies of hemoglobinopathies, both pharmacologic and non-pharmacologic, are also reviewed. Research reviews relevant to the care of children include physical and psychological sequelae, genetic counseling, and effects on learning. With a thorough understanding of the normal physiology of hemoglobin, the pathophysiology of SCD and the thalassemias, and the associated physical and psychological sequela, nurses can improve the quality of life for children and families living with these diseases.