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.
|
|
|
|
|
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|