Discussion
This case expands the base of knowledge in the HS field by identifying and tracking the impact of a deleterious heterozygous SPTBloss-of-function mutation not previously reported in the literature. Mutations in beta-spectrin, a principal cytoskeletal protein of the intracellular side of the plasma membrane, often show an autosomal dominant pattern of inheritance; however, this patient developed HS in the absence of a positive family history.6 Patients with SPTB mutations typically present with mild to moderate-severe phenotypes/symptoms, with the possibility of blood transfusions and splenectomy.7 This novel mutation guides us in tracking the patient’s clinical course over time. This also elucidates the class of HS and special considerations for future patient’s evaluation.
One limitation of this study is that the parents have not yet completed genetic testing. It is therefore unknown if this mutation has an autosomal recessive pattern or if it is a de novo mutation. The parents have been counseled about the risk of HS in future offspring at this time.