Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: A New Unstable α Chain Hemoglobin Variant Associated with Low Systemic Arterial Saturation

Erin M. GuestDepartment of Pediatrics, Division of Hematology/Oncology, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USACorrespondence[email protected]

Kathleen A. NevilleDepartment of Pediatrics, Division of Hematology/Oncology, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USA;Department of Pediatrics, Division of Clinical Pharmacology and Medical Toxicology, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USA

James D. HoyerDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

Martin K. SafoDepartment of Medicinal Chemistry, Virginia Commonwealth University, Richmond, Virginia, USA

Uttam GargDepartment of Pathology and Laboratory Medicine, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USA

Carol J. SaundersDepartment of Pathology and Laboratory Medicine, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USA

Osheiza AbdulmalikDepartment of Hematology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

David L. ZwickDepartment of Pathology and Laboratory Medicine, Children’s Mercy Hospital and Clinics, Kansas City, Missouri, USA

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Abstract

A new unstable α-globin variant was detected in a child with hypoxemia and anemia. The child’s mother was found to carry the same mutation. The hemoglobin (Hb) variant co-eluted with Hb A₂ by cation exchange high performance liquid chromatography (HPLC) and appeared cathodal to Hb A and anodal to Hb F by isoelectric focusing. It represented less than 20% of the total Hb and was unstable by isopropanol testing. Gene sequencing identified a missense mutation on the α2 gene [HBA2:c.140T>C]. Oxygen dissociation and P₅₀ test results were normal.

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Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: A New Unstable α Chain Hemoglobin Variant Associated with Low Systemic Arterial Saturation

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Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: A New Unstable α Chain Hemoglobin Variant Associated with Low Systemic Arterial Saturation

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