title: Unusual molecular basis of Hb H disease in the Azores Islands, 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.
authors.affiliation: Laboratório de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Romão
authors.forename: G
authors.initials: G
authors.lastname: Olim
authors.forename: M C
authors.initials: MC
authors.lastname: Martins
authors.forename: V
authors.initials: V
authors.lastname: Rodrigues
authors.forename: M P
authors.initials: MP
authors.lastname: Coutinho-Gomes
authors.forename: J
authors.initials: J
authors.lastname: Lavinha
mesh_terms: D001394:Azores; D002648:Child; D004247:DNA / Q000032:analysis; D005260:Female; D006403:Hematologic Tests; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*
chemical_list: D004247:DNA; D006447:Hemoglobin H