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

Case Reports in Hematology
Grace Onimoe, Genine Smarzo

Abstract

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.

References

Feb 1, 1985·British Journal of Haematology·P S HenthornT H Huisman
Nov 20, 1969·Annals of the New York Academy of Sciences·H A Pearson
Aug 20, 2002·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·T G de AndradeF F Costa
Jun 24, 2003·Blood Reviews·Ronald L NagelMartin H Steinberg
Dec 7, 2010·Lancet·David C ReesMark T Gladwin
Oct 11, 2016·Blood Research·Huma MansooriFarheen Karim

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BETA
electrophoresis

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