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Co-inheritance of compound heterozygous Hb constant spring and a single -α 3.7 gene deletion with heterozygous δβ thalassaemia: A diagnostic challenge

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dc.Chemicals/CASDNA, 9007-49-2; hemoglobin, 9008-02-0; hemoglobin A2, 37203-64-8, 37203-65-9, 53262-80-9, 9034-53-1, 99493-07-9; hemoglobin F, 9034-63-3; Hemoglobin Constant Spring, 9066-22-2; Hemoglobins, Abnormal; alpha-Globins
dc.citedby3
dc.contributor.affiliationsFaculty of Medicine and Health Sciences
dc.contributor.affiliationsUniversiti Kebangsaan Malaysia (UKM) Medical Centre
dc.contributor.affiliationsUniversiti Sains Islam Malaysia (USIM)
dc.contributor.authorAzma R.Z.en_US
dc.contributor.authorOthman A.en_US
dc.contributor.authorAzman N.en_US
dc.contributor.authorAlauddin H.en_US
dc.contributor.authorIthnin A.en_US
dc.contributor.authorYusof N.en_US
dc.contributor.authorRazak N.F.en_US
dc.contributor.authorSardi N.H.en_US
dc.contributor.authorHussin N.H.en_US
dc.date.accessioned2024-05-29T01:59:12Z
dc.date.available2024-05-29T01:59:12Z
dc.date.issued2012
dc.description.abstractHaemoglobin Constant Spring (Hb CS) mutation and single gene deletions are common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of deletional and non-deletional alpha (α) thalassaemias may result in various thalassaemia syndromes. Concomitant co-inheritance with beta (β) and delta (δ) gene abnormalities would result in improved clinical phenotype. We report here a 33-year-old male patient who was admitted with dengue haemorrhagic fever, with a background history of Grave's disease, incidentally noted to have mild hypochromic microcytic red cell indices. Physical examination revealed no thalassaemic features or hepatosplenomegaly. His full blood picture showed hypochromic microcytic red cells with normal haemoglobin (Hb) level. Quantitation of Hb using high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) revealed raised Hb F, normal Hb A 2 and Hb A levels. There was also small peak of Hb CS noted in CE. H inclusions was negative. Kleihauer test was positive with heterocellular distribution of Hb F among the red cells. DNA analysis for α globin gene mutations showed a single -α -3.7 deletion and Hb CS mutation. These findings were suggestive of compound heterozygosity of Hb CS and a single -α -3.7 deletion with a concomitant heterozygous δβ thalassaemia. Co-inheritance of Hb CS and a single -α -3.7 deletion is expected to result at the very least in a clinical phenotype similar to that of two alpha genes deletion. However we demonstrate here a phenotypic modification of α thalassemia presumptively as a result of co-inheritance with δβ chain abnormality as suggested by the high Hb F level.en_US
dc.description.natureFinalen_US
dc.identifier.epage62
dc.identifier.issn1268635
dc.identifier.issue1
dc.identifier.pmid22870600
dc.identifier.scopus2-s2.0-84863325394
dc.identifier.spage57
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84863325394&partnerID=40&md5=4abd5ca68c04ea258563da737e5a3a4e
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/10046
dc.identifier.volume34
dc.languageEnglish
dc.language.isoen_USen_US
dc.relation.ispartofMalaysian Journal of Pathology
dc.sourceScopus
dc.subjectα +thalassaemiaen_US
dc.subjectδβen_US
dc.subjectCapillary electrophoresisen_US
dc.subjectHb constant springen_US
dc.subjectMolecular analysisen_US
dc.subjectThalassaemiaen_US
dc.titleCo-inheritance of compound heterozygous Hb constant spring and a single -α 3.7 gene deletion with heterozygous δβ thalassaemia: A diagnostic challengeen_US
dc.title.alternativeMalays. J. Pathol.en_US
dc.typeArticleen_US
dspace.entity.typePublication

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