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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)545-548
Number of pages4
JournalAnnals of Hematology
Volume88
Issue number6
DOIs
StatePublished - Jun 1 2009

Keywords

  • Breakpoints
  • Hb Lepore-Baltimore
  • Hybrid variations
  • Polymerase chain reaction (PCR)
  • Sequencing

ASJC Scopus subject areas

  • Hematology

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