TY - JOUR
T1 - Rare occurrence of Hb Lepore-Baltimore in African Americans
T2 - Molecular characteristics and variations of Hb Lepores
AU - McKeown, Sean M.
AU - Carmichael, Harris
AU - Markowitz, Rhea-Beth
AU - Kutlar, Abdullah
AU - Holley, Leslie
AU - Kutlar, Ferdane
PY - 2009/6/1
Y1 - 2009/6/1
N2 - 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.
AB - 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.
KW - Breakpoints
KW - Hb Lepore-Baltimore
KW - Hybrid variations
KW - Polymerase chain reaction (PCR)
KW - Sequencing
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U2 - 10.1007/s00277-008-0631-4
DO - 10.1007/s00277-008-0631-4
M3 - Article
C2 - 18989669
AN - SCOPUS:67651031533
SN - 0939-5555
VL - 88
SP - 545
EP - 548
JO - Annals of Hematology
JF - Annals of Hematology
IS - 6
ER -