A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia

This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain ou...

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Bibliographic Details
Published inJournal of medical genetics Vol. 21; no. 2; pp. 153 - 156
Main Authors Galanello, R, Maccioni, L, Rosatelli, M C, Ibba, P, Nurchi, A M, Cao, A
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.04.1984
BMJ Publishing Group LTD
Subjects
Child
Child, Preschool
Chromosome Deletion
Female
Gene deletion
Gene mapping
Globins - genetics
Hemoglobin A2 - genetics
Heterozygotes
Humans
Male
Phenotype
Phenotypes
Research Article
Thalassemia
Thalassemia - genetics
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Summary:This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.
Bibliography:istex:1B5747F8B4F833A05F322146725FD21996FD91B0
ark:/67375/NVC-BK9XQJWZ-V
PMID:6716419
local:jmedgenet;21/2/153
href:jmedgenet-21-153.pdf
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.21.2.153