Hemoglobinopathy

What is hemoglobinopathy?

Hemoglobinopathy is a group of inherited blood disorders that affects your hemoglobin. Hemoglobin is a protein in your red blood cells. It helps carry oxygen throughout your body.

Hemoglobinopathy runs in families. It happens because of a genetic variation (gene change) that your biological parents can pass down to you. It’s the most common type of inherited blood disorder, affecting millions of people worldwide. By definition, the term “hemoglobinopathy” includes all inherited hemoglobin disorders. Researchers have identified over 600 types.

When your body makes abnormal hemoglobin — or doesn’t make enough of it — it can cause symptoms like pain, fatigue and organ damage. Early detection is key. That’s one reason healthcare providers screen newborns for hemoglobinopathies immediately after birth.

Hemoglobinopathy isn’t curable. But you can manage symptoms and avoid complications with treatment.

Types of hemoglobinopathy

There are hundreds of types of hemoglobinopathies. Many of their names contain letters. These letters represent different variants of the hemoglobin protein (and the order in which researchers discovered them). This gives healthcare providers information about the specific genetic variation responsible for the abnormality.

Some of the most common hemoglobinopathies are:

• Hemoglobin C disease: Hemoglobin C replaces normal hemoglobin
• Hemoglobin E disease: Hemoglobin E replaces normal hemoglobin
• Hemoglobin D disease: Hemoglobin D replaces normal hemoglobin
• Hemoglobin SC disease: You inherit one sickle cell gene and one hemoglobin C gene
• Hemoglobin SD disease: You inherit one sickle cell gene and one hemoglobin D gene
• Hemoglobin SE disease: You inherit one sickle cell gene and one hemoglobin E gene
• Sickle cell disease: Your red blood cells are sickle-shaped
• Thalassemias: Your body doesn’t make enough hemoglobin

What are the symptoms of hemoglobinopathy?

Symptoms of hemoglobinopathy include:

• Cold hands and feet
• Dark pee
• Fatigue
• Growth delays (in children)
• Jaundice
• Pale skin
• Shortness of breath
• Sleeping longer than usual
• Swelling in your hands and feet

Babies with severe hemoglobinopathies often have symptoms soon after they’re born. Other times, symptoms don’t appear until childhood. Adults with hemoglobinopathy may experience these symptoms during a flare-up (like a sickle cell crisis).

What causes hemoglobinopathy?

Hemoglobinopathy happens when you have a gene variation affecting your hemoglobin. You get the gene change from one or both of your biological parents.

Risk factors

You’re more likely to have hemoglobinopathy if you:

• Are of African, Mediterranean, Southeast Asian or West Asian descent
• Have a biological parent or sibling with hemoglobinopathy
• Live in an area where newborn hemoglobinopathy screenings aren’t routine

If you have hemoglobinopathy, you’re more likely to have a child with the disorder.

Complications of hemoglobinopathy

Complications of hemoglobinopathy include:

• Anemia. Some forms of hemoglobinopathy can lower your red blood cell count and cause anemia.
• Frequent infections. Hemoglobinopathy can cause a compromised immune system, which can increase your risk for infection.
• Organ damage. Hemoglobinopathy reduces oxygen levels in your blood. Over time, a lack of oxygen-rich blood can lead to tissue and organ damage.
• Pain episodes. Some types of hemoglobinopathies, like sickle cell disease, can cause blockages in your blood vessels. This restricts blood flow and results in pain.

How is hemoglobinopathy diagnosed?

Healthcare providers use several different tests to diagnose hemoglobinopathy, including:

• Complete blood count (CBC). This is typically the first blood test your provider will do. It tells them information about your blood cells, like how many of each type you have.
• Genetic testing. Your healthcare provider can do this test to identify specific gene variations.
• Hemoglobin electrophoresis. This test separates hemoglobin molecules from your blood sample to see if they’re abnormal.
• Iron studies. Your provider might do this test to find out if you have iron-deficiency anemia.
• Newborn screening. Many areas routinely test newborn babies for hemoglobinopathy, including Canada and most of the U.S.
• Prenatal testing. You can have this test done during pregnancy to see if the fetus has hemoglobinopathy.

How is hemoglobinopathy treated?

Hemoglobinopathy treatments include:

• Blood transfusions. Some hemoglobinopathies, like thalassemia and sickle cell disease, affect the amount of hemoglobin in your blood. You may need a blood transfusion so you have normal hemoglobin levels.
• Folic acid. These supplements may be able to boost red blood cell production.
• Gene therapy. Scientists take affected cells from your body, use special tools to fix them and then, put them back into your body. It’s like rewriting the instructions in your genes.
• Iron chelation therapy. If you have extra iron in your body, iron chelation therapy can remove it. You take this medication by mouth or injection.
• Oxygen therapy. Your healthcare provider may recommend oxygen therapy in combination with other treatments. The goal is to boost oxygen in your blood and reduce pain episodes.
• Stem cell transplant. This replaces abnormal red blood cells with healthy ones. This isn’t common because it can be difficult to find suitable donors. It also raises your risk of graft vs. host disease (GvHD).

Treatments vary depending on your unique situation. You may not need treatment if you have a very mild form of hemoglobinopathy. Be sure to ask your healthcare provider what’s best based on the type of hemoglobinopathy you have.

How soon after treatment will I feel better?

It depends on the type and severity of hemoglobinopathy you have. Most people feel better in a few weeks or months after starting treatment.

Hemoglobinopathy is a lifelong condition. You’ll need regular check-ups and monitoring. Your healthcare provider can help you find ways to ease your symptoms.

Can this be prevented?

No, you can’t prevent hemoglobinopathy because you inherit it. But you can manage your symptoms with appropriate treatment.

What’s the outlook for people with hemoglobinopathy?

Your outlook is good with the right treatment. Over 90% of people with hemoglobinopathy survive into adulthood.

Without treatment, many hemoglobinopathies result in death during the first few years of life. Early diagnosis is key and can help you avoid serious complications.

How do I take care of myself?

Living with hemoglobinopathy can be challenging. Taking care of yourself can reduce your risk for pain and other side effects.

Here are some general guidelines:

• Drink lots of water.
• Be physically active, but don’t overdo it.
• Eat foods that are rich in iron, vitamins and minerals.
• Manage your stress with meditation, yoga or other forms of mindfulness.
• Wash your hands frequently to help reduce your risk of infection.

When should I see my healthcare provider?

You should tell a healthcare provider if you experience fatigue, shortness of breath, pale skin or other symptoms.

If you’ve already been diagnosed with hemoglobinopathy, call your provider if your symptoms come back or get worse. They may need to adjust your treatment.

What questions should I ask my doctor?

If you or your child have hemoglobinopathy, you might want to ask your healthcare provider:

• What specific type of hemoglobinopathy do I have?
• What kind of treatment do you recommend?
• Will I need to see other specialists for treatment?
• Should I adjust my diet or exercise routine?
• What are the chances my children will get this condition?
• Do you have additional resources?

When should I go to the ER?

Call 911 or head to your nearest emergency room if you have:

• Chest pain
• Dizziness
• Fever over 103 degrees Fahrenheit (39.4 degrees Celsius)
• Severe pain that doesn’t get better with medication
• Signs of stroke, like sudden weakness or slurred speech

How does hemoglobinopathy affect my A1C?

Hemoglobinopathies can cause inaccurate A1C results. Depending on the genetic variant you have, you might get falsely low or high readings.

If you have hemoglobinopathy, your healthcare provider can recommend a testing method that minimizes this issue.