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Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
Features include: Oligohydramnios, Abnormal bleeding tendency (abnormal bleeding), Cholestasis, and Hepatic failure and 10 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 6 | Cholestasis, Hepatic failure, Liver scarring (fibrosis) (hepatic fibrosis) |
Biomarker and diagnostic research for neonatal hemochromatosis has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for neonatal hemochromatosis.
30 publications have been identified in PubMed for neonatal hemochromatosis. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (13%), and Clinical Trial Publication (13%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 17 | 57% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:03 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 |
Increased circulating iron concentration, Elevated ferritin (iron storage marker) (increased circulating ferritin concentration) |
Pregnancy and birth | 2 | Nonimmune hydrops fetalis, Prolonged neonatal jaundice |
Blood and immune system | 1 | Abnormal bleeding tendency (abnormal bleeding) |
Growth and development | 1 | Intrauterine growth retardation |
4 |
13% |
Clinical study results | 4 | 13% |
Disease patterns and progression | 2 | 7% |
Other research | 1 | 3% |
Testing and diagnosis research | 1 | 3% |
Laboratory research | 1 | 3% |
Sethi S (2026). [PMID: 41918550](https://pubmed.ncbi.nlm.nih.gov/41918550/). *ACG case reports journal*. [Case Report / Case Series]
Hudson J (2026). [PMID: 41387259](https://pubmed.ncbi.nlm.nih.gov/41387259/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Campos LR (2026). [PMID: 41614216](https://pubmed.ncbi.nlm.nih.gov/41614216/). *Pediatr Blood Cancer*. [Other]
González IA (2026). [PMID: 41277856](https://pubmed.ncbi.nlm.nih.gov/41277856/). *Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society*. [Epidemiology / Natural History]
Veiga-Canuto D (2026). [PMID: 42050293](https://pubmed.ncbi.nlm.nih.gov/42050293/). *Eur Radiol*. [Diagnostic / Biomarker]
Li JQ (2026). [PMID: 41401927](https://pubmed.ncbi.nlm.nih.gov/41401927/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Leung WY (2026). [PMID: 41935961](https://pubmed.ncbi.nlm.nih.gov/41935961/). *Pediatric blood & cancer*. [Case Report / Case Series]
Yokoyama K (2026). [PMID: 41889119](https://pubmed.ncbi.nlm.nih.gov/41889119/). *Pediatric blood & cancer*. [Case Report / Case Series]
Kobayashi N (2025). [PMID: 40878627](https://pubmed.ncbi.nlm.nih.gov/40878627/). *Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc*. [Case Report / Case Series]
Zhang Q (2025). [PMID: 39584589](https://pubmed.ncbi.nlm.nih.gov/39584589/). *Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society*. [Case Report / Case Series]
AI-curated news mentioning neonatal hemochromatosis
Updated Apr 28, 2026
A study highlights the utility of multi-echo MRI in differentiating neonatal hemochromatosis from other causes of neonatal liver failure. This advancement could improve diagnostic accuracy and patient management in affected infants.