Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.

Blood cells, molecules & diseases - 1 Jan 2000

Barton James C, Rao Sreenivas V, Pereira Naveen M, Gelbart Terri, Beutler Ernest, Rivers Charles A, Acton Ronald T

Abstract excerpt

We report clinical and genetic characteristics of seven juvenile hemochromatosis (JH) patients (six females, one male) in two unrelated kinships from the southeastern U.S. All had severe iron overload. Mean age at diagnosis was 20 +/- 5 years (range 8-23 years). In six patients, the mean age at onset of signs and symptoms attributable to iron overload was 15 +/- 2 years (12-18 years); an 8-year-old girl had no...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family Health

Share to Hemochromatosis

Share to Iron Overload

Share to Southeastern United States

Share to Treatment Outcome

Source

Identifiers

PMID: 12482411
DOI: 10.1006/bcmd.2002.0545

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.PMID 12482411Read ↗

Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease.Semantic proximity Read ↗

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes.Semantic proximity Read ↗

Juvenile hemochromatosis in a Spanish family.Semantic proximity Read ↗

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.Semantic proximity Read ↗

Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.Semantic proximity Read ↗

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.Semantic proximity Read ↗

Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada).Semantic proximity Read ↗

Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.Semantic proximity Read ↗

Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)Semantic proximity Read ↗

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.Semantic proximity Read ↗

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.Semantic proximity Read ↗

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.