Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy

Haematologica. 2007 Jul;92(7):990-1. doi: 10.3324/haematol.10970.

Abstract

Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.

MeSH terms

  • Genotype
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Italy
  • Mass Screening*
  • Point Mutation
  • Thalassemia / diagnosis
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Dhonburi