1.
Hemoglobin
; 14(6): 607-16, 1990.
Article
in English
| MEDLINE
| ID: mdl-2101837
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.
Subject(s)
Hemoglobin H/genetics , Thalassemia/genetics , Azores , Child , DNA/analysis , Female , Hematologic Tests , Humans , Mutation , Pedigree , Restriction Mapping
2.
Sangre (Barc)
; 11(1): 99-100, 1966.
Article
in Spanish
| MEDLINE
| ID: mdl-5933022