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

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.

• Authors: Leonilde Pagano, Assunta Viola, Gennaro Fioretti, Massimiliano Ammirabile, Paolo Ricchi, Luciano Prossomariti
• Journal: Haematologica (Haematologica) Vol. 92 Issue 7 Pg. 990-1 (Jul 2007) ISSN: 1592-8721 [Electronic] Italy
• PMID: 17606453 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Dhonburi

Topics

• Genotype
• Hemoglobins, Abnormal (genetics)
• Humans
• Italy
• Mass Screening
• Point Mutation
• Thalassemia (diagnosis, genetics)