First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G). 2021

Ugochi O Ogu, and Morayma Reyes Gil, and Seda S Tolu, and Seetharama A Acharya, and Caterina P Minniti
Division of Hematology, Department of Medicine, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.

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.

UI MeSH Term Description Entries
D008297 Male Males
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
D006451 Hemoglobin, Sickle An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. Hemoglobin S,Deoxygenated Sickle Hemoglobin,Deoxyhemoglobin S,Hemoglobin SS,Hemoglobin, Deoxygenated Sickle,SS, Hemoglobin,Sickle Hemoglobin,Sickle Hemoglobin, Deoxygenated
D006453 Hemoglobinopathies A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. Hemoglobinopathy
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000755 Anemia, Sickle Cell A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. Hemoglobin S Disease,HbS Disease,Sickle Cell Anemia,Sickle Cell Disease,Sickle Cell Disorders,Sickling Disorder Due to Hemoglobin S,Anemias, Sickle Cell,Cell Disease, Sickle,Cell Diseases, Sickle,Cell Disorder, Sickle,Cell Disorders, Sickle,Disease, Hemoglobin S,Hemoglobin S Diseases,Sickle Cell Anemias,Sickle Cell Diseases,Sickle Cell Disorder
D017086 beta-Thalassemia A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent. Anemia, Cooley's,Anemia, Erythroblastic,Anemia, Mediterranean,Hemoglobin F Disease,Thalassemia Major,Thalassemia Minor,Erythroblastic Anemia,Mediterranean Anemia,Microcytemia, beta Type,Thalassemia Intermedia,Thalassemia Major (beta-Thalassemia Major),Thalassemia Minor (beta-Thalassemia Minor),Thalassemia, beta Type,beta Thalassemia,Anemia, Cooley,Anemia, Cooleys,Anemias, Erythroblastic,Anemias, Mediterranean,Cooley's Anemia,Disease, Hemoglobin F,Intermedia, Thalassemia,Intermedias, Thalassemia,Major, Thalassemia (beta-Thalassemia Major),Majors, Thalassemia (beta-Thalassemia Major),Mediterranean Anemias,Microcytemias, beta Type,Minor, Thalassemia (beta-Thalassemia Minor),Minors, Thalassemia (beta-Thalassemia Minor),Thalassemia Intermedias,Thalassemia Major (beta Thalassemia Major),Thalassemia Majors (beta-Thalassemia Major),Thalassemia Minor (beta Thalassemia Minor),Thalassemia Minors (beta-Thalassemia Minor),Thalassemia, beta,Thalassemias, beta,Thalassemias, beta Type,Type Microcytemia, beta,Type Microcytemias, beta,Type Thalassemia, beta,Type Thalassemias, beta,beta Thalassemias,beta Type Microcytemia,beta Type Microcytemias,beta Type Thalassemia,beta Type Thalassemias

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