| The beta + IVS, I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta. | |
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MedLine Citation:
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PMID: 8518184 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In vitro DNA amplification and dot blot analysis with synthetic allele specific oligonucleotides (ASO) identified the beta + IVS, I-6 (T --> C) thalassaemia in 78% of 32 chromosomes from 16 beta-thalassaemia homozygotes in Malta. The preponderance of a single thalassaemia mutation in one population is unusual. The beta + IVS, I-6C thalassaemia mutation was also found in three carriers who had an associated beta globin heterozygosity, i.e. Hb Valletta (or alpha 2 beta 2 87PRO) or Hb S (or alpha 2 beta 2 6VAL). 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 beta + IVS, I-6C mutation complicates population testing because heterozygotes can have Hb A2 levels below those classically associated with beta thalassaemia. |
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Authors:
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C A Scerri; W Abela; R Galdies; M Pizzuto; J L Grech; A E Felice |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: British journal of haematology Volume: 83 ISSN: 0007-1048 ISO Abbreviation: Br. J. Haematol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1993-07-26 Completed Date: 1993-07-26 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372544 Medline TA: Br J Haematol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 669-71 Citation Subset: IM |
Affiliation:
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Department of Health, Valletta, Malta. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Erythrocyte Indices Hemoglobin A2 / analysis Hemoglobin, Sickle / analysis* Hemoglobins, Abnormal / analysis* Heterozygote Homozygote Humans Mutation / physiology* beta-Thalassemia / blood, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Hemoglobin, Sickle; 0/Hemoglobins, Abnormal; 0/hemoglobin Valletta; 9034-53-1/Hemoglobin A2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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