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Case Reports in Hematology
Volume 2017 (2017), Article ID 9265396, 3 pages
https://doi.org/10.1155/2017/9265396
Case Report

HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell

Cleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USA

Correspondence should be addressed to Grace Onimoe

Received 24 April 2017; Revised 3 August 2017; Accepted 17 August 2017; Published 17 September 2017

Academic Editor: Neelam Giri

Copyright © 2017 Grace Onimoe and Genine Smarzo. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the -globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(δβ)0-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as “FS” and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(δβ)0-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.