Unusual molecular basis of Hb H disease in the Azores Islands, Portugal.
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.
Romão
L
L
Laboratório de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
Olim
G
G
Martins
M C
MC
Rodrigues
V
V
Coutinho-Gomes
M P
MP
Lavinha
J
J
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*
D004247:DNA; D006447:Hemoglobin H