COMPOUND HETEROZYGOSITY FOR HB LEPORE-BOSTON AND HB NEAPOLIS (DHONBURI) [BETA-126(H4)VAL-]GLY] IN A PATIENT FROM NAPLES, ITALY

Authors
PAGANO L CARBONE V FIORETTI G VIOLA A BUFFARDI S RAMETTA V DESICATO S PUCCI P DEROSA C
Citation
L. Pagano et al., COMPOUND HETEROZYGOSITY FOR HB LEPORE-BOSTON AND HB NEAPOLIS (DHONBURI) [BETA-126(H4)VAL-]GLY] IN A PATIENT FROM NAPLES, ITALY, Hemoglobin, 21(1), 1997, pp. 1-15
Citations number
18
Categorie Soggetti
Biology,Hematology
Journal title
Hemoglobin → ACNP
ISSN journal
03630269
Volume
21
Issue
1
Year of publication
1997
Pages
1 - 15
Database
ISI
SICI code
0363-0269(1997)21:1<1:CHFHLA>2.0.ZU;2-O
Abstract
The simultaneous presence of two hemoglobin variants has been detected in a 14-month-old patient affected by thalassemia intermedia. The two variants were characterized by a combination of allele-specific ampli fication methods and mass spectrometric procedures carried out on isol ated globins. These were identified as Hb Lepore-Boston and Hb Neapoli s (also known as Hb Dhonburi) or beta 126(H4)Val-->Gly. Hb Lepore-Bost on is the most common hybrid variant detected in Campania and several cases of Hb Neapolis which causes a mild hypochromic microcytic anemia have been identified in this region in the last few years. This is th e first report of a double heterozygosity involving Hb Lepore-Boston a nd Hb Neapolis.