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dc.contributor.authorScerri, Christian A.-
dc.contributor.authorAbela, W.-
dc.contributor.authorGaldies, Ruth-
dc.contributor.authorPizzuto, Monica-
dc.contributor.authorGrech, Joseph L.-
dc.contributor.authorFelice, Alex E.-
dc.identifier.citationScerri, C. A., Abela, W., Galdies, R., Pizzuto, M., Grech, J. L., & Felice, A. E. (1993). The β+ IVS, I‐NT no. 6 (T→ C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta. British Journal of Haematology, 83(4), 669-671.en_GB
dc.description.abstractSummary. In vitro DNA amplification and dot blot analysis with synthetic allele specific oligonucleotides (ASO) identified the β IVS, I‐6 (T→C) thalassaemia in 78% of 32 chromosomes from 16 β‐thalassaemia homozygotes in Malta. The preponderance of a single thalassaemia mutation in one population is unusual. The β+ IVS, I‐6C thalassaemia mutation was also found in three carriers who had an associated β globin heterozygosity, i.e. Hb Valletta (or α2β287PRO) or Hb S (or α2β26VAL). The proportion of Hb A in these cases (av. = 29.7%) provided objective documentation of the relatively mild effect of this mutation on in vivo globin gene expression. However, the expression of homozygous disease was more severe in developing children compared to adults. The β+ IVS, I‐6C mutation complicates population testing because heterozygotes can have Hb A2 levels below those classically associated with β thalassaemia.en_GB
dc.description.sponsorshipThis work was supported by institutional funds of the Malta Department of Health, and the University of Malta, and by an award from the World Health Organization.en_GB
dc.publisherWiley Online Libraryen_GB
dc.subjectHemoglobin polymorphismsen_GB
dc.titleThe β+ IVS, I‐NT no. 6 (T→ C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Maltaen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.publication.titleBritish Journal of Haematologyen_GB
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