Document Detail


Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype.
MedLine Citation:
PMID:  18932069     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Lepore hemoglobins (Hbs) are a group of structural defects resulting from different recombination events between the delta- and beta-globin genes. They may come with different beta-thalassemia (beta-thal) minor-like phenotypes in the carrier and with variably severe phenotypes in the rare homozygote, and in the common compound heterozygote with beta-thal. The most seriously affected patients are those of Yugoslavian origin presenting with severe transfusion-dependent hemolytic anemia, dyserythropoiesis, hepatosplenomegaly and skeletal malformations. Because of genetic risk, couples where both partners are carriers of these combinations may require prognosis and prenatal diagnosis. In these cases, recognition of the defect must be done with particular care. We report a case of Hb Lepore induced by a yet unknown crossover event found in a 24-year-old Turkish male and compare the novel mutation with those previously reported.
Authors:
Cornelis L Harteveld; Pierre W Wijermans; Sandra G J Arkesteijn; Peter Van Delft; Jean-Louis Kerkhoffs; Piero C Giordano
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hemoglobin     Volume:  32     ISSN:  1532-432X     ISO Abbreviation:  Hemoglobin     Publication Date:  2008  
Date Detail:
Created Date:  2008-10-20     Completed Date:  2009-07-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  United States    
Other Details:
Languages:  eng     Pagination:  446-53     Citation Subset:  IM    
Affiliation:
Department of Human and Clinical Genetics and The Hemoglobinopathies Laboratory, Leiden University Medical Center, Leiden, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Hemoglobin A2 / genetics*
Hemoglobins, Abnormal / genetics*
Humans
Male
Young Adult
beta-Thalassemia / genetics*
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 50926-06-2/hemoglobin Leiden; 9034-53-1/Hemoglobin A2; 9062-66-2/hemoglobin Lepore

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


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