Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy.

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 amplification methods and mass spectrometric procedures carried out on isolated globins. These were identified as Hb Lepore-Boston and Hb Neapolis (also known as Hb Dhonburi) or beta 126 (H4)Val-->Gly. Hb Lepore-Boston 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 the first report of a double heterozygosity involving Hb Lepore-Boston and Hb Neapolis.

• Authors: L Pagano, V Carbone, G Fioretti, A Viola, S Buffardi, V Rametta, S Desicato, P Pucci, C De Rosa
• Journal: Hemoglobin (Hemoglobin) Vol. 21 Issue 1 Pg. 1-15 (Jan 1997) ISSN: 0363-0269 [Print] England
• PMID: 9028819 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Dhonburi
• hemoglobin Lepore Boston

Topics

• Follow-Up Studies
• Hematologic Tests
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Infant
• Italy
• Male