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 A 2 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 P 50 test results were normal.
Original language | English (US) |
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Pages (from-to) | 411-416 |
Number of pages | 6 |
Journal | Hemoglobin |
Volume | 35 |
Issue number | 4 |
DOIs | |
State | Published - Aug 2011 |
Keywords
- Hb Lake Tapawingo
- Oxygen saturation
- Unstable hemoglobin (Hb)
- α-Globin variant
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Genetics(clinical)
- Biochemistry, medical