Bantu siderosis

Other Names: African iron overload; Hereditary iron overload and African Americans; Iron overload in Africa

A rare disorder described in sub-Saharan African populations and characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.

African iron overload is a condition that involves absorption of too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the liver, bone marrow, and spleen. Humans cannot increase the excretion of iron, although some iron is lost through bleeding or when cells of the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron levels in the body are primarily regulated through control of how much iron is absorbed from the diet.

African iron overload results from a diet high in iron. It is particularly associated with consumption of a traditional African beer that contains dissolved iron from the metal drums in which it is brewed. Some evidence suggests that a genetic predisposition to absorbing too much iron may also be involved.

In African iron overload, excess iron typically accumulates primarily in certain immune cells called reticuloendothelial cells. Reticuloendothelial cells include macrophages in the bone marrow and spleen and Kupffer cells, which are specialized macrophages found in the liver that help protect the body against foreign invaders such as viruses and bacteria. Later in the course of the condition, iron also accumulates in liver cells (hepatocytes). This pattern differs from that seen in a similar iron overload disorder called hereditary hemochromatosis, in which the excess iron accumulates primarily in the hepatocytes.

Epidemiology

African iron overload is common in rural areas of central and southern Africa; up to 10 percent of the population in these regions may be affected. Men seem to be affected more often than women, possibly due to some combination of differences in dietary iron consumption and women's shedding of excess iron through blood loss in menstruation and childbirth.

The prevalence of increased iron stores in people of African descent in other parts of the world is unknown; however, these individuals may be at higher risk of developing mildly increased iron stores than are people of European background.

Cause

African iron overload was first noted in rural central and southern African populations among people who drink a traditional beer brewed in uncoated steel drums that allow iron (a component of steel) to leach into the beer. However, not all individuals who drink the beer develop African iron overload, and not all individuals of African descent with iron overload drink the beer. Therefore, researchers are seeking genetic differences that affect the risk of developing this condition.

Some studies have indicated that a variation in the SLC40A1 gene increases the risk of developing increased iron stores in people of African descent. This variation is found in 5 to 20 percent of people of African descent but is not generally found in other populations.

The SLC40A1 gene provides instructions for making a protein called ferroportin. This protein is involved in the process of iron absorption in the body. Iron from the diet is absorbed through the walls of the small intestine. Ferroportin then transports iron from the small intestine into the bloodstream, and the iron is carried by the blood to the tissues and organs of the body. Ferroportin also transports iron out of reticuloendothelial cells in the liver, spleen, and bone marrow. The amount of iron absorbed by the body depends on the amount of iron stored and released from intestinal cells and macrophages.

The SLC40A1 gene variation that some studies have associated with increased iron stores in people of African descent may affect the way ferroportin helps to regulate iron absorption in the body. However, researchers suggest that this variation is not associated with most cases of African iron overload.

Inheritance

African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.

Signs and symptoms

When too much iron is absorbed, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver can lead to chronic liver disease (cirrhosis). Cirrhosis increases the risk of developing a type of liver cancer called hepatocellular carcinoma. Iron overload in immune cells may affect their ability to fight infections. African iron overload is associated with an increased risk of developing infections such as tuberculosis. The excess iron also leads to a faster-than-normal breakdown of vitamin C in the body, so affected individuals are at increased risk of vitamin C deficiency problems such as scurvy.

People with African iron overload may have a slightly low number of red blood cells (mild anemia), possibly because the iron that accumulates in the liver, bone marrow, and spleen is less available for production of red blood cells. Affected individuals also have high levels of a protein called ferritin in their blood, which can be detected with a blood test. Ferritin stores and releases iron in cells, and cells produce more ferritin in response to excess amounts of iron.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Increased serum ferritin(Elevated serum ferritin)

30%-79% of people have these symptoms

• Elevated hepatic iron concentration(Increased iron concentration in liver)
• Elevated transferrin saturation
• Hepatic periportal necrosis
• Viral hepatitis

5%-29% of people have these symptoms

• Abnormal heart morphology(Abnormality of the heart)
• Abnormal pancreas morphology(Abnormally shaped pancreas)
• Abnormal thyroid morphology(Abnormal shape of thyroid gland)
• Abnormality of adrenal morphology
• Abnormality of the genital system(Genital abnormalities)
• Chronic infection
• Congestive heart failure(Cardiac failure)
• Diabetes mellitus
• Hepatic bridging fibrosis
• Hepatic steatosis(Fatty infiltration of liver)
• Hepatocellular carcinoma
• Hepatomegaly(Enlarged liver)
• Increased circulating cortisol level
• Low levels of vitamin C(Vitamin C deficiency)
• Micronodular cirrhosis

1%-4% of people have these symptoms

• Esophageal carcinoma
• Osteoporosis
• Peritonitis

Diagnosis

Iron tests measure different substances in the blood to check iron levels in your body.

Different types of iron tests include:

• Serum iron test, which measures the amount of iron in the blood
• Transferrin test, which measures transferrin, a protein that moves iron throughout the body
• Total iron-binding capacity (TIBC), which measures how well iron attaches to transferrin and other proteins in the blood
• Ferritin blood test, which measures how much iron is stored in the body

Treatment

A person's hemoglobin is important in the physician's consideration of iron reduction therapy. A physician can provide therapeutic phlebotomy if the patient's hemoglobin level is sufficient to sustain blood removal.

The physician can also recommend the patient to routinely donate blood. When a patient's hemoglobin is not sufficient for phlebotomy. Iron reduction will likely require the removal of iron using specific drugs (iron-chelation). The physician may use a combination of these therapies in some situations.

Prognosis

Individuals of sub-Saharan African descent with ferroportin Q248H are more likely to be diagnosed with African iron overload than individual without ferroportin mutation because individuals with ferroportin Q248H have elevated level of serum ferritin concentration. Individuals of African descent should also avoid drinking traditional beer.

NIH genetic and rare disease info

• NIH info on Bantu siderosis

Bantu siderosis is a rare disease.

Bantu siderosis Resources
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NIH genetic and rare disease info

• NIH info on Bantu siderosis

Bantu siderosis is a rare disease.