Hemoglobin C Disease: Symptoms, Hemoglobin C Trait, And More

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What is hemoglobin C disease?

A red swirl of string. — Utkarsh Dongre/Getty Images

Hemoglobin C disease is an inherited condition, which means that it passes down in families. It occurs when a genetic mutation affects hemoglobin protein, causing it to produce hemoglobin C instead of hemoglobin A.

In a person without the condition, red blood cells are soft and disk-shaped. They can easily squeeze through blood vessels to transport oxygen throughout the body.

In someone with hemoglobin C disease, the red blood cells are not as flexible and clump together easily. This causes them to break more quickly than usual. This breaking can contribute to hemolytic anemia, a condition in which red blood cells are destroyed faster than the body produces them.

Most people with this type of anemia do not have serious symptoms. However, severe hemolytic anemia can cause fever, chills, pain in the abdomen and back, and shock. And without treatment, it can lead to complications.

Hemoglobin C trait

The hemoglobin C trait passes from parents to their children. Everyone inherits two hemoglobin genes from their parents. If a baby has a hemoglobin A gene from one parent and a hemoglobin C gene from the other, they develop hemoglobin C trait.

Hemoglobin C is a recessive gene. This means that if both parents have hemoglobin C trait, there is a 25% chance that their child will inherit two hemoglobin C genes. That means they will develop a hemoglobin disorder, such as hemoglobin C disease.

Having hemoglobin C trait is very common, and it is not an illness.

The trait is more prevalent in people of African descent, and it is present in 2–3% of African American people. It is also common in the Mediterranean region, South Europe, South America, South Asia, and the Middle East.

Symptoms

Most people with hemoglobin C disease have no symptoms. If someone with the condition develops hemolytic anemia, they may experience:

weakness
paleness of the skin
lightheadedness
dark-colored urine
fever
fatigue

Hemolytic anemia symptoms can be similar to those of other blood disorders and other health issues. A person should consult a healthcare professional if they experience:

joint pain
gallstones
continuous infections

Diagnosis

In newborns, doctors can screen for genetic abnormalities, such as hemoglobin C trait or disease. Because hemoglobin C trait is not an illness, and so causes no symptoms, many people do not know that they have it.

Diagnosing hemoglobin C disease often begins with a review of a person’s medical history and any symptoms. A person’s family medical history may reveal that a parent has the trait.

During a physical examination, the doctor assesses any signs of the condition. They may gently press on different areas of a person’s abdomen to check for tenderness, such as the upper right quadrant behind the ribs, which can indicate an enlarged spleen.

If a doctor suspects hemoglobin C disease, they can perform blood tests to check the amount of hemoglobin in the blood and the presence of any abnormal hemoglobin.

Some of the tests that a doctor may perform include:

Complete blood count: This measures the number of platelets, white blood cells, red blood cells, and hemoglobin in the blood. Abnormally low red blood cell levels can indicate anemia.

Peripheral smear or blood smear: In this test, a doctor looks at a smear of blood under a microscope. They assess the size, shape, and number of platelets, red blood cells, and white blood cells. They also look at how much hemoglobin the red blood cells contain.

Hemoglobin electrophoresis: This test measures different types of hemoglobin in the blood. It involves using an electric current to separate the hemoglobin in a sample and detect any abnormal hemoglobin.

Blood hemoglobin: This test measures the amount of hemoglobin that exists outside red blood cells.

Differential diagnosis: When a doctor suspects hemoglobin C disease, they may perform other tests to check for similar diseases, such as:

beta thalassemia
sickle cell anemia
different types of hemolytic anemias

Treatment

Because hemoglobin C disease usually causes no symptoms, it usually does not require treatment.

People with the disease can develop anemia. If they do, it is mild and rarely interferes with their everyday lives. In some instances, treating chronic hemolytic anemia is necessary.

Hemolysis occurs when the body destroys red blood cells and releases hemoglobin into the bloodstream. This leads to a reduction in folic acid. Taking folic acid supplements can help the body produce more red blood cells and improve anemia symptoms.

Outlook

The outlook for hemoglobin C disease is good. Most people with the disease have no symptoms and do not need treatment.

If a person with hemoglobin C trait wants to have children, they might consider genetic counseling or blood tests for hemoglobin types. A genetic counselor can also help answer questions about hemoglobin C disease.

Summary

Hemoglobin C disease affects the red blood cells. It occurs when a person inherits two copies of hemoglobin C from their parents.

Usually, it requires no treatment. However, some people develop mild anemia and symptoms such as fatigue, weakness, and a fever.

Blood / Hematology

How we reviewed this article:

SourcesMedical News Today has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical journals and associations. We only use quality, credible sources to ensure content accuracy and integrity. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.

Agapidou, A., et al. (2017). Double heterozygosity for hemoglobin C and beta-thalassemia are dominant: A rare case of thalassemia intermedia.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768097/
Azzam, M., et al. (2019). Serum folate levels in patients with chronic hemolytic anemia on regular folic acid supplementation before and after dose modification [Abstract].https://pubmed.ncbi.nlm.nih.gov/31724541/
Blood smear. (2021).https://medlineplus.gov/lab-tests/blood-smear/
Complete blood count (CBC). (2020).https://medlineplus.gov/lab-tests/complete-blood-count-cbc/
Gell, D. A. (2018). Structure and function of hemoglobins [Abstract].https://pubmed.ncbi.nlm.nih.gov/29126700/
Genetic counseling: Prevention of thalassaemias and other hemoglobin disorders. (2013).https://www.ncbi.nlm.nih.gov/books/NBK190461/
Hematology. (n.d.).https://www.hopkinsmedicine.org/health/treatment-tests-and-therapies/hematology
Hemoglobin electrophoresis. (2021).https://medlineplus.gov/lab-tests/hemoglobin-electrophoresis/
Hemolytic anemia. (n.d.).https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia
Hemolytic anemia. (n.d.).https://www.nhlbi.nih.gov/health-topics/hemolytic-anemia
Karna, B., et al. (2021). Hemoglobin C disease.https://www.ncbi.nlm.nih.gov/books/NBK559043/
Kuhn, V., et al. (2017). Red blood cell function and dysfunction: Redox regulation, nitric oxide metabolism, anemia. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421513/
Mullins, F., et al. (2018). Sickle cell hemoglobin C disease patient undergoing coronary artery bypass grafting with complete exchange blood transfusion during cardiopulmonary bypass.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002650/
Piel, F. B., et al. (2013). The distribution of hemoglobin C and its prevalence in newborns in Africa.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628164/
Yang, E., et al. (2017). Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858911/

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Medically reviewed by Meredith Goodwin, MD, FAAFP — Written by Annette Khayela on November 30, 2021

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What is hemoglobin C disease?

Hemoglobin C trait

Symptoms

Diagnosis

Treatment

Outlook

Summary

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