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dc.contributor.authorAl Balushi, Halimaen
dc.contributor.authorWali, Yen
dc.contributor.authorAl Awadi, Men
dc.contributor.authorAl-Subhi, Ten
dc.contributor.authorRees, DCen
dc.contributor.authorBrewin, JNen
dc.contributor.authorHannemann, Ankeen
dc.contributor.authorGibson, Johnen
dc.date.accessioned2017-06-28T10:11:50Z
dc.date.available2017-06-28T10:11:50Z
dc.date.issued2017-07-12en
dc.identifier.issn0007-1048
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/265039
dc.description.abstractStudying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K$^{+}$ permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K$^{+}$ was markedly abnormal with elevated activities of P$_{sickle}$, Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca$^{2+}$ entry and Mg$^{2+}$ loss via P$_{sickle}$ stimulating Gardos channel and KCC activities. The abnormal red cell behaviour was similar to that in the commonest genotype of SCD, HbSS, in which the level of mutated Hb is considerably higher. Although activities of all three K$^{+}$ transporters also correlated with the level of HbS-Oman, there was no association between transport phenotype and disease severity. The super sickling behaviour of HbS-Oman may obviate the need for solute loss and red cell dehydration to encourage Hb polymerisation, required in other SCD genotypes. Disease severity was reduced by concurrent α thalassaemia, as observed in other SCD genotypes, and represents an obvious genetic marker for prognostic tests of severity in young SCD patients of the HbA/S-Oman genotype.
dc.description.sponsorshipHWMA is generously supported by a grant from the Sultanate of Oman and the project was sponsored by His Majesty Sultan Qaboos’s 1000 grants.
dc.language.isoenen
dc.publisherWiley
dc.subjectsickle cell diseaseen
dc.subjectHbS-Omanen
dc.subjectα thalassaeamiaen
dc.subjectsicklingen
dc.subjectK+ permeabilityen
dc.titleThe super sickling haemoglobin HbS-Oman: a study of red cell sickling, K+ permeability and associations with disease severity in patients heterozygous for HbA and HbS-Oman (HbA/S-Oman genotype)en
dc.typeArticle
prism.publicationDate2017en
prism.publicationNameBritish Journal of Haematologyen
dc.identifier.doi10.17863/CAM.10740
dcterms.dateAccepted2017-06-04en
rioxxterms.versionofrecord10.1111/bjh.14851en
rioxxterms.versionAMen
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2017-07-12en
dc.contributor.orcidHannemann, Anke [0000-0002-2925-1124]
dc.contributor.orcidGibson, John [0000-0001-6145-9139]
dc.identifier.eissn1365-2141
rioxxterms.typeJournal Article/Reviewen
cam.issuedOnline2017-07-12en
rioxxterms.freetoread.startdate2018-07-12


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