Hemochromatosis is a genetic disorder where the body absorbs too much iron from the diet, leading to an excessive buildup of iron in various organs. This iron overload can damage tissues and organs over time. This article explores how hemochromatosis interacts with pregnancy, its effects on both mother and baby, and management strategies during gestation.
How Pregnancy Influences Iron Levels with Hemochromatosis
Normal pregnancy significantly increases a woman’s iron requirements to support the expanding maternal blood volume, placental development, and fetal growth. The total iron needed throughout pregnancy can range from approximately 480 to 1150 mg. The maternal plasma volume can increase by 30% to 50%, and red blood cell mass by 20% to 30%, which naturally dilutes iron stores.
To meet these heightened demands, the body enhances dietary iron absorption and mobilizes iron from existing stores. This process involves a decrease in hepcidin, a hormone that regulates iron metabolism, which usually reaches its lowest levels during the third trimester when iron needs are highest.
In individuals with hemochromatosis, this balance is disrupted. The HFE gene normally regulates hepcidin expression, but in hemochromatosis, hepcidin levels are diminished despite elevated iron stores. This leads to continuous, excessive iron absorption from the digestive tract, even when the body already has too much iron.
Even with the increased iron demands of pregnancy, the underlying genetic predisposition in hemochromatosis means the body continues to absorb iron beyond what is needed, potentially leading to persistent or exacerbated iron overload. Although pregnancy can temporarily reduce a woman’s iron levels due to blood loss during delivery and the baby’s iron needs, this effect generally does not offer a long-term benefit for overall iron stores in the mother’s body.
Potential Effects on Mother and Baby
Unmanaged or severe hemochromatosis can have several implications for both the pregnant mother and the developing fetus. For the mother, symptoms like fatigue and joint pain may occur. More serious complications can include liver issues, such as cirrhosis, and an increased risk of developing gestational diabetes mellitus (GDM).
Iron overload in pregnancy has been associated with a higher prevalence of hypertensive disorders, including pre-eclampsia. There is also an increased risk for venous thromboembolism (VTE).
For the baby, maternal hemochromatosis can still pose risks. Studies suggest associations between maternal iron overload and adverse neonatal outcomes, including neurocognitive deficits and an increased risk for later development of type 1 diabetes. Elevated maternal iron levels may also lead to increased lead absorption, potentially compounding neurocognitive deficits in the fetus.
Managing Hemochromatosis During Pregnancy
Diagnosis of hemochromatosis often involves blood tests that measure iron levels, transferrin saturation (the ratio of iron to transferrin, a protein that carries iron in the blood), and ferritin levels (a protein that stores iron). Genetic testing for HFE gene mutations can confirm the diagnosis. If organ damage is suspected, further tests like a liver ultrasound or MRI may be conducted.
The primary treatment for hemochromatosis is therapeutic phlebotomy, which involves regularly drawing blood to reduce iron levels. During pregnancy, the approach to phlebotomy may be adjusted. While most sources suggest pausing regular phlebotomy during pregnancy, close monitoring of maternal iron levels is necessary to prevent anemia, as pregnant women with hemochromatosis can still develop iron deficiency.
Dietary considerations are also part of managing hemochromatosis during pregnancy. Avoiding iron-fortified foods and iron supplements, unless specifically prescribed by a healthcare provider for iron deficiency, is generally recommended. Consuming tea or coffee with meals and including calcium-rich foods may help reduce iron absorption. Close collaboration with a healthcare team, including obstetricians and specialists, is important for personalized management throughout pregnancy. If iron deficiency occurs, it should be treated similar to any other pregnant woman, with phlebotomy potentially resuming postpartum if ferritin levels are high.