Situs Inversus Totalis and Sickle Cell Anemia: Case Report and Review of Literature

Abstract

Background: Situs inversus totalis (SIT) is a rare, autosomal recessive congenital variation, in which the organs of the chest and abdomen are in a mirrored or reversed position in relation to the usual topography. The incidence of SIT in the general population is low and range of 1 in 8,000 to 1 in 25,000, with the majority of people affected being asymptomatic. Sickle Cell Anemia (SCA), however, is a genetic, monogenic, recessive disease, has a high prevalence in Brazil, with an estimate of 1: 1,350 live births. Case Report and Methods: The authors report a rare case of SIT in a male child with SCA identified through neonatal screening. The patient's clinical data were extracted from medical records. The diagnosis of SIT was suspected in the pediatric consultation, after altered cardiac auscultation. Screening tests were performed to identify other somatic malformations. Discussion: SIT is a rare and benign condition, with late and incidental diagnosis in most cases. SCA is a disease diagnosed through neonatal screening with a well-defined multidisciplinary team. In this patient, it was observed that specialized consultations in a reference service for genetic diseases led to early diagnosis of SIT. The importance of this case report is due to the rarity of SIT and the lack of description in the literature of SIT associated with SCA.