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.