Unusual molecular basis of Hb H disease in the Azores Islands, Portugal |
| |
Authors: | L Rom?o G Olim M C Martins V Rodrigues M P Coutinho-Gomes J Lavinha |
| |
Affiliation: | Laboratório de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal. |
| |
Abstract: | An Azorean family with Hb H disease (10% Hb H) was studied in order to elucidate its molecular basis. DNA studies on the patient only revealed a 4.2 kb "leftward" deletion of paternal origin which implies the co-inheritance of a nondeletional alpha-thalassemia determinant. Restriction endonuclease and oligonucleotide analysis allowed the exclusion of five point mutations: initiation codon (at both alpha 1- and alpha 2-globin genes), IVS-I donor splice junction pentanucleotide deletion, codon 125 CTG----CCG substitution, and Saudi Arabian polyadenylation signal mutation. These findings suggest that the molecular basis of this form of Hb H disease is probably different from those described previously. |
| |
Keywords: | |
|
|