HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Joint Authors
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-09-17
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the β-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.
American Psychological Association (APA)
Onimoe, Grace& Smarzo, Genine. 2017. HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell. Case Reports in Hematology،Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1146056
Modern Language Association (MLA)
Onimoe, Grace& Smarzo, Genine. HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell. Case Reports in Hematology No. 2017 (2017), pp.1-3.
https://search.emarefa.net/detail/BIM-1146056
American Medical Association (AMA)
Onimoe, Grace& Smarzo, Genine. HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell. Case Reports in Hematology. 2017. Vol. 2017, no. 2017, pp.1-3.
https://search.emarefa.net/detail/BIM-1146056
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1146056