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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 4
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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

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
 show all
Pages 411-416 | Received 31 Jan 2011, Accepted 13 Apr 2011, Published online: 28 Jul 2011
 
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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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