Compound Heterozygosity for HB Lepore-Boston and HB Neapolis (Dhonburi) [β T126(H4)VALàGLY] in a Patient from Naples, Italy

Compound Heterozygosity for HB Lepore-Boston and HB Neapolis (Dhonburi) [β T126(H4)VALàGLY] in a Patient from Naples, Italy

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...

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Veröffentlicht in:Hemoglobin 1997, Vol.21 (1), p.1-15
Hauptverfasser: Pagano, L., Carbone, V., Fioretti, G., Viola, A., Buffardi, S., Metta, V. Ra, Desicato, S., Pucci, P., Rosa, C. De
Format: Artikel
Sprache:eng
Schlagworte:
Follow-Up Studies
Hematologic Tests
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Infant
Italy
Male
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Zusammenfassung: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 β126(H4)ValàGly. 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.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630269708997506