Document Detail

Rare occurrence of Hb Lepore-Baltimore in African Americans: molecular characteristics and variations of Hb Lepores.
MedLine Citation:
PMID:  18989669     Owner:  NLM     Status:  MEDLINE    
Hb Lepore is the hybrid hemoglobin (Hb) composed of two alpha-globin chains and two deltabeta hybrid chains and is associated with the clinical findings of thalassemia minor in its heterozygous form. Hb Lepore can be found in many ethnic groups, commonly in southern European countries, but rarely in African Americans. The first Hb Lepore case in an African-American individual was named Hb Lepore-The Bronx (Hb Lepore-Boston). Hb Lepore-Washington-Boston and Hb Lepore-Baltimore with a breakpoint of (delta50Ser/beta86Ala) were later reported. In this paper, we describe an Hb Lepore-Baltimore (delta68Leu/beta84Thr) deltabeta-fusion gene with a different breakpoint detected for the first time in an African-American female. We have used state-of-the-art technology, combining protein- and DNA-based methods, in the analysis of the hybrid hemoglobin and discuss its molecular characteristics.
Sean M McKeown; Harris Carmichael; Rhea-Beth Markowitz; Abdullah Kutlar; Leslie Holley; Ferdane Kutlar
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-11-07
Journal Detail:
Title:  Annals of hematology     Volume:  88     ISSN:  1432-0584     ISO Abbreviation:  Ann. Hematol.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-04     Completed Date:  2009-07-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107334     Medline TA:  Ann Hematol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  545-8     Citation Subset:  IM    
Department of Medicine, Medical College of Georgia, Augusta, GA, USA.
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MeSH Terms
African Americans / genetics*
Base Sequence
Genetic Variation / genetics*
Hemoglobins, Abnormal / analysis*,  genetics,  metabolism*
Molecular Sequence Data
Reg. No./Substance:
0/Hemoglobins, Abnormal; 39289-38-8/hemoglobin Lepore Boston

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