When you ask most people, “What is anemia?” you’ll likely get the same answer: “It’s when you have low levels of iron in your blood.” But as functional medicine practitioners, it is important to remember that the common definition of a medical term isn’t always the same as the correct definition.
Medically speaking, anemias, of which there are many types, have less to do with iron levels in the blood, although that is an important component in diagnosing and treating them. Instead, the true definition focuses on the number of red blood cells in the blood and how healthy those cells are.
You can paradoxically be anemic and have too much iron in your blood.
In other words, being anemic simply means you don’t have enough healthy red blood cells, regardless of iron levels.
This means you can paradoxically be anemic and have too much iron in your blood. There are, in fact, a number of conditions that meet these criteria. They are grouped under the umbrella of “iron-loading anemias.”
But, as we discussed in our last post, simply having too much iron in your blood doesn’t mean you have a form of iron-loading anemia. It could also be a symptom of hereditary hemochromatosis (HH). To make matters more difficult, both conditions share other symptoms such as fatigue and irregular heartbeat.
And with so many cases of both HH and iron-loading anemias going undiagnosed, understanding the difference between HH and iron-loading anemias is key to treating your chronic patients.
The Pathophysiology of Iron-Deficient Anemias
In iron-deficient anemias—what most people just think of as “anemia”—the iron stores in the body are depleted. This is often due to poor nutrition. As a result, the bone marrow doesn’t produce enough red blood cells and hemoglobin, since the necessary building blocks aren’t present.
Other factors than a poor diet can cause iron-deficient anemias.
Over time, this lack of sufficient numbers of red blood cells leads to symptoms that can include:
- Tiredness
- Weakness
- Cold hands and feet
- Pale or yellowish skin
- Dizziness or lightheadedness
This form of iron deficiency can often be remedied with a healthy diet focusing on getting plenty of iron, folate, and vitamins B12 and C.
However, it’s also worth remembering that other factors than a poor diet can cause iron-deficient anemias. Inflammation, disease, and genetics can also lead to anemias and low blood-iron levels. In these cases, treatment should extend beyond diet modifications to address the underlying root cause.
The Pathophysiology of Iron-Overload Anemias
Iron-overload anemias, by contrast, are most commonly caused by specific genetic disorders that affect red blood cell production and health.
Take thalassemia, for example. This inherited blood disorder causes the body to slow the production of hemoglobin proteins. Additionally, bone marrow produces fewer (and smaller) healthy red blood cells. (Interestingly, the genetic mutations responsible for this disease arose as a defense mechanism against malaria. This means thalassemia is more likely to affect people of African, Southern European, and Asian descent.)
Sideroblastic anemia (SA) is another blood disorder that falls in this group. In this type of iron-loading anemia, the body doesn’t make effective use of the iron in red blood cells. While there is a genetic component—some people are born with the disease—SA often develops when a patient experiences one or more of the following:
- Has an existing blood disorder
- Has a reaction to certain medications
- Suffers from alcoholism
- Has been overly exposed to lead or zinc
Iron-overload anemias are most commonly caused by specific genetic disorders that affect red blood cell production and health.
Congenital dyserythropoietic anaemia (CDA) is yet another rare, inherited blood disorder in which the body produces red blood cells atypically. There are four major types of CDA, each with its own genetic causes and symptoms. They are generally characterized by fatigue, jaundice, and various organ problems.
In all types of iron-loading anemia, patients are truly anemic, with low red blood cell counts and damaged or unhealthy red blood cells. Having fewer and less effective red blood cells leads to excess iron in the bloodstream. And while our body needs a certain amount of iron to function optimally, having too much iron is toxic.
How Are Iron-Overload Anemias Different from Hereditary Hemochromatosis?
So how do iron-loading anemias differ from HH? First and foremost, patients suffering from HH have red blood cell counts in the normal range. This is because HH is primarily a disorder of iron metabolism.
In HH, the body naturally doesn’t make enough hepcidin—a hormone that regulates iron absorption—due to a specific genetic mutation. Without sufficient hepcidin, too much iron gets absorbed by the body. The excess iron accumulates in organs like the liver, heart, and pancreas.
We must learn to look for this distinction in our chronic patients to ensure our treatment protocols address the correct root cause.
Iron-loading anemias are different. Bone marrow still ends up underproducing hepcidin, leading to excess iron that is stored in and damages the body’s organs. But the cause in this case is ineffective red blood cell production (erythropoiesis). In other words, with too few red blood cells being produced, the bone marrow sends out a signal protein called erythroferrone to turn off hepcidin production.
So while HH directly causes hepcidin production to fall, in iron-loading anemias, it’s more of a secondary effect.
The upshot for us as functional medicine practitioners is this: we must learn to look for and identify this distinction in our chronic patients to ensure our treatment protocols address the correct root cause.
Diagnosing and Treating Iron-Overload Anemias in Your Patients
In our previous post, we detailed how to diagnose and treat HH. To recap, the diagnosis is straightforward:
- The patient must have an iron saturation over 45 percent and high ferritin levels.
- The patient must have one or more copies of an altered HFE gene: either C282Y, H63D, or S65C.
Treatment is also straightforward and includes:
- Blood removal
- Use of iron chelators and antioxidants (including specific supplements)
- Dietary and lifestyle modification
So how does that compare to diagnosing and treating iron-loading anemias? Like HH, ordering robust blood testing with a CBC, iron panel, and ferritin count is a necessary first step.
Unlike HH, of course, low red blood cell counts will be the biggest tell for your anemia patients. From there, reviewing blood-iron results can help steer you in the right direction to identify if the anemia in question involves iron deficiency or iron overload.
If you assume anemia is not present in your patients with high iron levels, it is a recipe for potentially misdiagnosing those under your care.
But beware: If you assume anemia is not present in your patients with high iron levels, it is a recipe for potentially misdiagnosing those under your care. This is something obviously to be avoided at all costs!
Once a diagnosis of an iron-loading anemia is clear, you can design an effective treatment plan. In conventional medicine, the standard protocol includes iron chelation therapy and, when necessary, red blood cell transfusions. Within functional medicine, treatment can be expanded to include:
- Prohibiting the patient from giving blood or having blood removed (unlike HH, this can be very dangerous for iron-loading anemia patients!)
- Using natural supplements to chelate iron and increase hepcidin production in the body
- Taking antioxidants to prevent ferroptosis
Dr. Christy Sutton Master Class – Understanding the Role of Iron Overload and Undiagnosed Anemias in Chronic Patients Who Cannot Recover
The sad truth is iron-related disorders like HH and iron-loading anemias are frequently overlooked. Doctors often either don’t know enough about these conditions or misinterpret or ignore lab results that could point them in the right direction with their chronic patients.
As functional medicine practitioners, we can and should do better. If you want to learn more about diagnosing and treating your patients suffering from iron-overload anemias, you’ll want to sign up for Understanding the Role of Iron Overload and Undiagnosed Anemias in Chronic Patients Who Cannot Recover, our newest Kharrazian Institute Master Class taught by Dr. Christy Sutton.
If you desire truly personalized and effective health plans for your patients, this class is for you.
Dr. Sutton’s comprehensive master class provides an in-depth exploration of iron metabolism and the wide spectrum of iron-related disorders, highlighting commonly overlooked causes and presentations of hereditary hemochromatosis and anemias. This class will empower you with the knowledge to diagnose and treat your patients more effectively.
If you desire truly personalized and effective health plans for your patients, this class is for you. Be sure to register today!
