Details

Autor(en) / Beteiligte

• Burt, M J
• Upton, J D
• Morison, I M
• Chapman, B A
• Faed, J M
• George, P M

Titel

Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis

Ist Teil von

• New Zealand medical journal, 1997-11, Vol.110 (1056), p.429

Ort / Verlag

New Zealand

Erscheinungsjahr

1997

Quelle

MEDLINE

Beschreibungen/Notizen

• To determine the frequency of HLA-H gene mutations in New Zealand patients with haemochromatosis. The Cys282Tyr and His63Asp mutations in the HLA-H gene were analyzed by polymerase chain reaction, restriction enzyme digestion and electrophoresis in two separate patient groups. The first was a group of 20 Christchurch patients with a definite clinical diagnosis of haemochromatosis. The second group consisted of 33 patients, with a provisional diagnosis of haemochromatosis, attending Dunedin Hospital for therapeutic venesection. All 20 Christchurch patients and 25 of the 33 (76%) Dunedin patients were homozygous for the Cys282Tyr mutation. After review of the clinical data, histology and response to venesection a diagnosis of haemochromatosis could be confidently excluded in six of the remaining eight patients. Despite atypical features, a diagnosis of haemochromatosis could not be excluded in the final two patients, one of whom was a compound heterozygote for the two mutations. Homozygosity for the Cys282Tyr mutation is closely associated with haemochromatosis in New Zealand patients. Molecular analysis of the HLA-H gene is indicated in the assessment of patients with iron overload including those currently being treated by venesection.