Hereditary Elliptocytosis

Hereditary elliptocytosis (HE) is a genetic disorder where lots of your red blood cells are shaped like ovals. Normal red blood cells (RBCs) are round, like concave discs. With HE, you inherit abnormal genes that cause many of your RBCs to be oval-shaped (ovalocytes).

HE doesn’t usually cause issues. But you may have symptoms if your spleen destroys the ovalocytes. It’s your spleen’s job to filter out and break down, or destroy, old and damaged blood cells. If your spleen thinks your oval-shaped cells are damaged, it might filter them out, too. This could cause anemia.

The breakdown of too many RBCs can lead to jaundice and an enlarged spleen. It can increase your risk of gallstones. They form when the contents released from the destroyed RBCs build up.

Symptoms of hereditary elliptocytosis

Hereditary elliptocytosis doesn’t typically cause symptoms. If it does, it’s usually because your spleen has destroyed the oval RBCs faster than your body can replace them.

Symptoms may include:

• Fatigue
• Pale or yellow skin, and yellowing in the whites of your eyes
• Pain in your upper left abdomen (where your spleen is) or being able to feel a bulge there
• Pee that’s darker than usual
• Ulcers on your legs

Hereditary elliptocytosis causes

Hereditary elliptocytosis involves inheriting abnormal genes from a biological parent. You only have to inherit the gene from one parent to have the condition.

The genes code for proteins that support the membrane of your red blood cells. A normal membrane allows RBCs to shapeshift as they travel through your bloodstream. For example, they may squeeze into an oval shape to get through tiny capillary walls. Once they’re on the other side, they become round again. This is thanks to proteins that give RBCs an elastic membrane.

But abnormal genes make abnormal proteins. As a result, the membrane isn’t as elastic. The RBCs that shapeshift get stuck in the oval shape. The more unstable the membrane is, the more likely it is that your spleen will destroy the RBCs too early.

Risk factors

Your risk of HE is greater if you’re from a part of the world where lots of people carry the abnormal gene. These places include Africa (especially West Africa). They also include several countries in the Mediterranean and Southeast Asia.

The places where hereditary elliptocytosis is most common are also where malaria is common. Some studies show that in some cases, ovalocytes may protect against malaria. This means it’s possible that HE developed as a way to defend against this infection. But other studies show there’s no connection.

More research is needed to know for sure.

How doctors diagnose this condition

Healthcare providers diagnose HE by examining your red blood cells beneath a microscope. If 15% or more of your RBCs are oval-shaped (and no other cause can be found), you likely have hereditary elliptocytosis. Your provider may order other tests, including ones to measure how good your RBCs are at shapeshifting. Rarely, you may need genetic testing.

The reasons that people see a provider to get diagnosed vary. Sometimes, symptoms like jaundice show up at birth, and you’re diagnosed early on. Or HE may show up later in a routine blood test or a test to diagnose anemia.

Some people go through life without symptoms until their body is especially stressed. Stressful events where symptoms may appear include infections and pregnancy. (This is because it may be harder for your body to make replacement RBCs when it’s also fighting germs or nourishing a fetus.)

How is hereditary elliptocytosis treated?

You won’t need treatment unless you have symptoms. Treatment depends on how severe your case is and includes:

• Folate supplements: You may need folate to support the health of your red blood cells.
• Blood transfusions: If you have severe anemia, you may need transfusions to get new RBCs.
• Splenectomy: You may need to have your spleen removed if your symptoms are extremely severe. Removing your spleen prevents it from destroying too many red blood cells. But this is a last resort because it increases your risk of certain severe infections.

When should I see my healthcare provider?

See a provider if you’re having anemia symptoms, like fatigue or becoming short of breath more easily with exercise. You may need blood tests to see if you have anemia. In rare cases, hereditary elliptocytosis may be the cause.

What can I expect if I have this condition?

The prognosis is excellent. While there’s no cure for hereditary elliptocytosis, most people don’t have issues. Even people with symptoms often go on to live normal lives under the care of a blood specialist who helps manage the condition.

Is there anything I can do to feel better?

If you know there’s an issue with your red blood cells, take extra care of them. Make sure you’re getting the nutrients you need to support your RBCs, like iron and folate.

Let all of your healthcare providers know about your condition. They need to know everything about your medical history so they can deliver the best care.

Can elliptocytosis be prevented?

It’s not usually preventable. But you can educate yourself on how likely you are to pass the condition on to future children. Your healthcare provider may recommend genetic counseling to assess the risks.

You can also let blood relatives know that you have HE. They can get tested to see if they have it, too.

What is the difference between hereditary spherocytosis and hereditary elliptocytosis?

Both are genetic disorders that may put you at risk of anemia. Hereditary elliptocytosis causes your red blood cells to be oval-shaped. Hereditary spherocytosis causes blood cells to become rounded like beach balls instead of the usual disc shape.

The gene mutations and the proteins affected in these two conditions are different. Also, the symptoms of hereditary elliptocytosis tend to be milder than in hereditary spherocytosis.