Abstract
Background: To enhance our understanding on the diagnosis and treatment of neonatal hereditary spherocytosis (HS).
Methods: We summarized the clinical data and gene test results of a neonatal HS caused by a new mutation of SPTB gene. Meanwhile, a comprehensive literature review was performed. Gene sequencing and analysis was carried out for the crucial splicing signals on the exons and introns of the 302 known pathogenic genes (e.g. ANK1, SPTA1, EPB42, SLC4A1 and SPTB) associated with the genetic deficiency of erythrocyte.
Results: A 26-day-old girl presented jaundice, anemia, an increased count in peripheral blood reticulocyte and spherocyte, as well as positive findings in the acidified glycerol hemolysis test. Gene sequencing revealed a new mutation of c.3737delA P. (Lys1246fs) in the exon 16 of SPTB (14q23 | NM_000347.5) gene in the patient and her father. The mutation was a frame-shifting mutation, which may result in truncation of beta-haemoglobin in erythrocyte membrane and loss of its normal function, leading to the occurrence of diseases.
Conclusion: For the neonates with jaundice and anemia, family history, erythrocyte index and peripheral blood smear findings contributed to the diagnosis of HS. Gene sequencing is helpful for the diagnosis. We identified a novel mutation of SPTB gene, which may be pathogenic through modulating the activity of β-spectrin in the erythrocyte membrane.
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families
