Novel haemoglobin mutation (α127Lys→Glu) increases oxygen affinity and has a minor effect on haptoglobin binding

Brennan, Stephen O.; Pullon, Beverley M.; Owen, Maurice C.; Brittain, Thomas

doi:10.1016/j.clinbiochem.2012.08.021

Cited by 2 publications

(1 citation statement)

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“…Further examination of lysate by reverse phase HPLC 5 showed a more hydrophobic b chain representing 35% of the total β chain material (Figure 2). β chains were further characterized by tryptic peptide mapping which showed 0.4 and 0.3 increases in m/z of the +2 and +3 ions of peptide b8-9, suggesting a b66Lys®Glu mutation (Figure 3).…”

Section: Case Reportmentioning

confidence: 99%

Hb I-Toulouse in Association with Homozygosity for the α3.7 Deletion in a Pacific Island Woman

Pullon¹

2016

Thalassemia Reports

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Only four cases of Hb I-Toulouse have been reported to date. Current literature associates Hb I-Toulouse in the heterozygote with a mild chronic hemolytic anemia. The variant is mildly unstable with a tendency to form metHb. The quantity of the variant in heterozygotes has been reported as varying between 33 to 40%. This report confirms the finding from a single case, that a reduced percentage of Hb IToulouse along with microcytosis can be attributed to the co-inheritance of an abnormal α globin genotype. This current case was found in a woman of Pacific People ethnicity residing in New Zealand. There is a high prevalence of α thalassemia in this ethnic group and New Zealand has the highest Pacific population in the world. Therefore, if a reduced percentage of Hb I-Toulouse is found with microcytosis and normal iron studies, co-inheritance with α thalassemia should be considered.

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Section: Case Reportmentioning

confidence: 99%