Original Paper

Hb Jambol: A New Hyperunstable Hemoglobin Causing Severe Hemolytic Anemia
G.D. Efremov^a, L. Simjanovska^a, D. Plaseska-Karanfilska^a, E. Stanojevic^a, G.H. Petkov<sup>b

a</sup>Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia;
^bPediatric Clinic, Faculty of Medicine, Stara Zagora, Bulgaria

Address of Corresponding Author

Acta Haematol 2007;117:1-7 (DOI: 10.1159/000096783)

  Key Words

• -Thalassemia, dominant
• Genomic rearrangement, complex
• Hemoglobin, abnormal
• Hemoglobin, hyperunstable
• Hemoglobin Jambol

  Abstract

We describe a new hyperunstable -chain variant due to a complex genomic rearrangement. The abnormal hemoglobin (Hb) was found as a de novo mutation in a 2-year-old Bulgarian girl with severe hemolytic anemia. The mutation was detected through RNA/DNA analysis. It represents a complex genomic rearrangement involving an insertion of 23 nts after IVS-II-535 (derived by triplication of the 12-nts adjacent sequence and subsequent deletion of 1 nt), a deletion of 310 nts extending from IVS-II-550 to the first nt of Cd 108 and an insertion of 28 nts at the deletion junctions (derived from the inverted sequence between nts +3,707 and +3,734 3' to the -globin gene termination codon). At the protein level this mutation leads to a deletion of 4 amino acid residues (Leu-Leu-Glu-Asn) at positions 105-108 and an insertion of 9 residues (Val-Pro-Ser-Val-Thr-Leu-Phe-Phe-Asp) at the same location, creating an abnormal elongated -chain of 151 amino acid residues. This highly unstable variant was named 'Hb Jambol' after the geographic location in which the patient resides.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Prof. Dr. Georgi D. Efremov
Research Center for Genetic Engineering and Biotechnology
Macedonian Academy of Sciences and Arts, Avenue Krste Misirkov 2, PO 428
Skopje 1000 (Republic of Macedonia)
Tel. +3892 3235 411, Fax +3892 3115 434, E-Mail gde@manu.edu.mk

  Article Information

Received: February 20, 2006
Accepted: February 21, 2006
Published online: November 8, 2006
Number of Print Pages : 7
Number of Figures : 2, Number of Tables : 1, Number of References : 35