COMPOUND HETEROZYGOSITY FOR Hb C AND Hb LEPORE-BOSTON-WASHINGTON IN A PATIENT FROM CROATIA
Bardarova K1, Plaseska-Karanfilska D1, Preden-Kerekovic V2, Efremov GD1
*Corresponding Author: : Professor Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology, Aven. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +3892 239 061; Fax: +3892 115 131; E-mail: gde@manu.edu.mk
page: 33

Abstract

Compound heterozygosity for Hb C and Hb Lepore-Boston-Washington is a rare condition that has been described in only a few cases. Hb C is predominantly found in Blacks with the highest frequency in West Africa, while Hb Lepore-Boston-Washington is the most common hybrid hemoglobin found mainly in Italy, the former Yugoslavia, and Greece.

Here we present a 25-year-old patient from Croatia with this condition. The presence of two abnormal hemoglobins was observed by cellulose acetate electrophoresis during routine hematological and hemoglobin analysis. Hb C was characterized by DNA sequencing, while the presence of Hb Lepore-Boston-Washington was confirmed by polymerase chain reaction amplification of the Lepore hybrid gene using 5' d- and 3' b-globin gene specific primers, followed by PvuII restriction enzyme digestion. Family studies showed that Hb Lepore-Boston-Washington was inherited from the patient's father who is of Croatian ancestry, while Hb C was inherited from his mother who originates from Hungary. Since Hb C has been found very rarely in this region, haplotype analyses were performed to trace its origin in this family. It is known that Hb C occurs almost exclusively on one haplotype, with a few exceptions due to recombination in the b-globin cluster.

    Hb C in this family was found on a haplotype that differs at several polymorphic sites from the typical Hb C haplotype. These data indicate that the Hb C mutation in this family has not been derived from the African bC chromosome.

Key words: Hb C, Hb Lepore-Boston-Washington (Hb LBW), haplotype.




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