Document Detail


The silent carrier of beta thalassemia: interaction with the typical beta thalassemic trait.
MedLine Citation:
PMID:  444685     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The case of a girl affected by a Colley's disease of moderate severity is reported. A brother and a sister had levels of Hb F respectively of 18% and 45%. The father showed all the hematological signs of heterozygous thalassemia. The mother, however, was normal so far as osmotic fragility, red cell morphology, and Hb A2 level are concerned. In vitro hemoglobin chains biosynthesis was performed in all the subjects. Both the parents showed an alfa/non alfa ratio typical of beta thalassemia. Therefore, the mother has to be considered a "silent" carrier of the trait. The daughters and the son have a less severe Colley disease originating by such a double heterozygosity.
Authors:
G Aicardi; A Naselli; G V Sciarratta; G Sansone
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blut     Volume:  38     ISSN:  0006-5242     ISO Abbreviation:  Blut     Publication Date:  1979 Jun 
Date Detail:
Created Date:  1979-08-29     Completed Date:  1979-08-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0173401     Medline TA:  Blut     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  473-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Child
Female
Fetal Hemoglobin / analysis
Hemoglobin A2 / analysis
Hepatomegaly / etiology
Heterozygote
Humans
Pedigree
Splenomegaly / etiology
Thalassemia / complications,  genetics*
Chemical
Reg. No./Substance:
9034-53-1/Hemoglobin A2; 9034-63-3/Fetal Hemoglobin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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