Document Detail


beta Thalassemia associated with increased HB F production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant linked to beta thalassemia in a southern Italian population.
MedLine Citation:
PMID:  6162827     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A family has been observed in which a beta thalassemia determinant is inherited over three generations together with high Hb F level (8-12%) and increased number of fetal-hemoglobin-containing-cells (F-cells). The values of red cell indices and globin chain synthesis ratios, yet typical of beta thalassemia, were significantly shifted to the normal values when compared with those of typical beta thalassemia heterozygotes belonging to the same family group. The occurrence in these individuals of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant and its linkage relationship with the beta thalassemia is discussed. In the third generation two adult individuals were beta thalassemia homozygotes having inherited a beta thalassemia determinant from one parent and a beta thalassemia together with the HPFH determinant from the other. They showed an extremely mild clinical condition, and 11-12 g/dl of mainly Hb F without having ever required blood transfusions. Virtually all the red cells were F-cells in both subjects. The importance of the coexistence of HPFH determinants capable of increasing the size of the F-cell population in patients affected by homozygous thalassemia is discussed, considering the sensible benefit which derives from enhanced Hb F production in this syndrome.
Authors:
M Marinucci; F Mavilio; A Giuliani; M Gabbianelli; L Tentori; L Tentori; C O Zorini; E Lamberti; A Palazzolo; D Lanzo
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hemoglobin     Volume:  5     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1981  
Date Detail:
Created Date:  1981-05-13     Completed Date:  1981-05-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1-17     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Child
Female
Fetal Hemoglobin / biosynthesis*
Globins / biosynthesis
Hematologic Tests
Hemoglobin A2 / genetics
Hemoglobinopathies / complications,  genetics*
Heterozygote
Humans
Italy
Male
Middle Aged
Mutation
Pedigree
Thalassemia / blood,  complications,  genetics*
Chemical
Reg. No./Substance:
9004-22-2/Globins; 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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