African iron overload

General Information (adopted from Orphanet):

Synonyms, Signs: AFRICAN IRON OVERLOAD
bantu siderosis
Number of Symptoms 1
OrphanetNr: 139507
OMIM Id: 601195
ICD-10: E83.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of iron metabolism and transport
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
(HPO:0012463) Elevated transferrin saturation 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) African iron overload is a distinct iron-loading disorder prevalent in Africa. Formerly termed Bantu siderosis, the disorder results from a predisposition to iron loading that is exacerbated by excessive intake of dietary iron. It is particularly a problem ...
Clinical Description OMIM The pattern of iron deposition among persons with African iron overload differs from that among those with hereditary hemochromatosis (see 235200) (Gangaidzo et al., 1999). In the former persons, there is marked iron loading of Kupffer cells as ...
Molecular genetics OMIM In a study of 1,042 African chromosomes, Merryweather-Clarke et al. (1997) found a prevalence of 0% for the HFE C282Y mutation (613609.0001), the most common cause of hereditary hemochromatosis in persons of European descent. PCR analysis of DNA ...