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

Hemoglobin. 1997 Jan;21(1):1-15. doi: 10.3109/03630269708997506.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Dhonburi
  • hemoglobin Lepore Boston