Rare occurrence of Hb Lepore-Baltimore in African Americans: molecular characteristics and variations of Hb Lepores.
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.
McKeown
Sean M
SM
Department of Medicine, Medical College of Georgia, Augusta, GA, USA.
Carmichael
Harris
H
Markowitz
Rhea-Beth
RB
Kutlar
Abdullah
A
Holley
Leslie
L
Kutlar
Ferdane
F
D000328:Adult; D001741:Black or African American / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008969:Molecular Sequence Data
D006455:Hemoglobins, Abnormal; C031751:hemoglobin Lepore Boston