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

INTRODUCTION

Compound heterozygosity for Hb C and Hb Lepore-Boston-Washington (Hb LBW) is an unusual and very rare hemoglobinopathy since these two, relatively common hemoglobin (Hb) variants originate from distinct geographical regions [1].

Hb C [b6(A3)GluLys] is found predominantly in the Black population, with the highest frequency in West Africa [2]. Individual cases have been reported in several ethnic groups (for further information, see [3]). Haplotype analyses of Hb C have shown that Hb C occurs almost exclusively on one haplotype [ +   + + +] (referring to HincII/e, HindIII/ Gg, HindIII/Ag, HincII/yb, HincII/ 3'yb, AvaII/b, and BamHI/3'b polymorphisms), with a few exceptions due to recombination 5' to the b-globin gene [4,5]. These data sup­port the hypothesis for a single origin of the Hb C mutation in West Africa.

Hb LBW (d87-bIVS-II-8) is the most frequent Lepore Hb. It is found worldwide, but is most common in Italy, the former Yugoslavia and Greece [6]. It has been found on different haplotypes, but it is most often associated with the Mediterranean haplotype V or [+     + ] [7].

In this report we present hematological, Hb and DNA analysis data of a 25-year-old patient from Croatia with a compound heterozygosity for these two variants.




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