Two New Hemoglobin Variants: Hb Sinai-Greenspring [β34(B16)Val→Ile, GTC > ATC] and Hb Sinai-Bel Air [β53(D4)Ala→Asp, GCT > GAT]

Erin Dainer Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA

Robert E. Wenk Department of Pathology, Sinai Hospital of Baltimore, Baltimore, MD, USA

Ruth Luddy Department of Pediatrics, Sinai Hospital of Baltimore, Baltimore, MD, USA

Dedrey Elam Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA

Leslie Holley Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA

Abdullah Kutlar Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA

Ferdane Kutlar Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USACorrespondence[email protected]

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Abstract

Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different β chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified β-globin genes. Functional studies could not be performed at this time.

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Two New Hemoglobin Variants: Hb Sinai-Greenspring [β34(B16)Val→Ile, GTC > ATC] and Hb Sinai-Bel Air [β53(D4)Ala→Asp, GCT > GAT]

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Two New Hemoglobin Variants: Hb Sinai-Greenspring [β34(B16)Val→Ile, GTC > ATC] and Hb Sinai-Bel Air [β53(D4)Ala→Asp, GCT > GAT]

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