+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Natural history of juvenile haemochromatosis

Natural history of juvenile haemochromatosis

British Journal of Haematology 117(4): 973-979

Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes equally and is characterized by a prevalence of hypogonadism and cardiopathy. Patients with haemochromatosis type 2 have been reported in different ethnic groups. Linkage to chromosome 1q has been established recently, but the gene remains unknown. We report the analysis of the phenotype of 29 patients from 20 families of different ethnic origin with a juvenile 1q-associated disease. We also compared the clinical expression of 26 juvenile haemochromatosis patients with that of 93 C282Y homozygous males and of 11 subjects with haemochromatosis type 3. Patients with haemochromatosis type 2 were statistically younger at presentation and had a more severe iron burden than C282Y homozygotes and haemochromatosis type 3 patients. They were more frequently affected by cardiopathy, hypogonadism and reduced glucose tolerance. In contrast cirrhosis was not statistically different among the three groups. These data suggest that the rapid iron accumulation in haemochromatosis type 2 causes preferential tissue damage. Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 011039912

Download citation: RISBibTeXText

PMID: 12060140

DOI: 10.1046/j.1365-2141.2002.03509.x

Related references

Non Butanol Extractable Iodine in the Serum of Eumetabolic Adult Goitre Patients. Clinical and Radioiodine Studies. Acta Endocrinologica 44: 291-312, 1963

Effect of treatment in periodontal pockets clinical parameters and inflammatory cell counts. Journal of Dental Research 68(SPEC ISSUE JUNE): 898, 1989

The natural history of arteriovenous malformations. Research Publications - Association for Research in Nervous and Mental Disease 41: 180-187, 1966

The natural history of japanese encephalitis virus. 1986

Juvenile granulosa cell tumor of the testis: report of two cases in newborns. Journal of Pediatric Surgery 32(5): 752-753, 1997

Natural history of intravenous catheters in a neonatal intensive care unit. Clinical Research 34(4): 979A, 1986

Juvenile angiofibroma. (see Book Title) [Author] Sekhar, L N and I P Janecka (Ed ) Surgery of cranial base tumors xxi+870p Raven Press: New York, New York, USA Illus ISBN 0-88167-877-5 : 485-496, 1993

Computer study of iodide transport in thyroid slices in vitro. Computers and Biomedical Research, An International Journal 8(5): 405-422, 1975

Pattern and coloration of Periclimenes rathbunae from the Turks and Caicos Islands, with comments on host associations in other anemone shrimps of the West Indies and Bermuda. Gulf Research Reports 83: 301-311, 1991

The natural history of juvenile ankylosing spondylitis a case control study of juvenile and adult onset disease. Arthritis and Rheumatism 24(4 Suppl.): S79, 1981

Natural history of chronic pancreatitis a study of 120 cases. Gastroenterologie Clinique et Biologique 7(1): 8-13, 1983

Natural history of pulmonary hypertension in surgically treated patent ductus arteriosus. CIRCULATION 31(4 Suppl 1): I-61-I-66, 1965

Natural history of ground-glass nodules detected on the chest computed tomography scan after major lung resection. Annals of Thoracic Surgery 96(6): 1952-1957, 2013

The natural history of resectable metastatic melanoma (Stage IVA melanoma). Cancer 50(8): 1656-1663, 1982

11th Meeting of the European Society for Pigment Cell Research, Gent, Belgium, September 17-20, 2003. Pigment Cell Research 16(5): 570-604, 2003