First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G)

Abstract

Sickle cell disease variants include hemoglobinopathies that result from inheritance of the sickle cell globin mutation with another globin mutation. The most common variants include the homozygous disease state (Hb SS disease), Hb S (HBB: c.20A>T)/Hb C (HBB: c.19G>A) disease and Hb S/β-thalassemia (Hb S/β-thal). Other rare/less common variants such as Hb S/Hb E (HBB: c.79G>A) and Hb S/HPFH [hereditary persistence of fetal hemoglobin (Hb)] disease exist. We report the first case of compound heterozygosity for Hb S and Hb Haringey (HBB: c.131A>G) in a 35-year-old male following a positive sickle screen test on hospital admission for pancreatitis. Ion exchange high performance liquid chromatography (HPLC), Hb electrophoresis and genetic sequencing were utilized to identify a new sickle Hb variant: Hb S/Hb Haringey. Hb S/Hb Haringey is a newly discovered sickle cell variant which seems to portray a mild/benign clinical phenotype of sickle cell disease.

Keywords:

• Compound heterozygosity
• Hb Haringey
• Hb S/Hb Haringey
• sickle cell disease

Acknowledgments

A submitted abstract of this study was accepted and presented as a poster on 10/12/18 at the 46th Annual Convention of the Sickle Cell Disease Association of America (SCDAA), Baltimore, MD, USA. Author's contributions. Concept and design: U.O. Ogu, C.P. Minniti and M.R. Gil; acquisition, analysis, or interpretation of data: U.O. Ogu, C.P. Minniti, M.R. Gil, S.S. Tolu and S.A. Acharya; drafting of the manuscript: U.O. Ogu; critical revision of the manuscript for important intellectual content: U.O. Ogu, C.P. Minniti, M.R. Gil and S.A. Acharya.

Disclosure statement

C.P. Minniti reports consulting with Novartis (Cambridge, MA), Global Blood Therapeutics (South San Francisco, CA), Emmaus Life Science (Torrrance, CA), CSL Behring, (King of Prussia, PA), Roche Diagnostics, (Indianapolis, IN). U.O. Ogu reports consulting with Vertex Pharmaceuticals (Boston, MA), Novo-Nordisk, (Plainsboro, NJ).

Data availability statement

No new data generated.