Annals of Hematology

, 88:545

Rare occurrence of Hb Lepore-Baltimore in African Americans: molecular characteristics and variations of Hb Lepores

  • Sean M. McKeown
  • Harris Carmichael
  • Rhea-Beth Markowitz
  • Abdullah Kutlar
  • Leslie Holley
  • Ferdane Kutlar
Original Article

DOI: 10.1007/s00277-008-0631-4

Cite this article as:
McKeown, S.M., Carmichael, H., Markowitz, RB. et al. Ann Hematol (2009) 88: 545. doi:10.1007/s00277-008-0631-4

Abstract

Hb Lepore is the hybrid hemoglobin (Hb) composed of two α-globin chains and two δβ 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 (δ50Ser/β86Ala) were later reported. In this paper, we describe an Hb Lepore-Baltimore (δ68Leu/β84Thr) δβ-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.

Keywords

Hb Lepore-BaltimoreBreakpointsHybrid variationsPolymerase chain reaction (PCR)Sequencing

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Sean M. McKeown
    • 1
  • Harris Carmichael
    • 1
  • Rhea-Beth Markowitz
    • 2
  • Abdullah Kutlar
    • 1
  • Leslie Holley
    • 1
  • Ferdane Kutlar
    • 1
  1. 1.Titus H.J. Huisman Hemoglobinopathy Laboratory, Department of MedicineMedical College of GeorgiaAugustaUSA
  2. 2.Institute of Molecular Medicine and GeneticsMedical College of GeorgiaAugustaUSA