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Disease Profile

Gamma heavy chain disease

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

IgG heavy chain disease; Franklin disease; Gamma heavy chain deposition disease


Gamma heavy chain disease affects the growth of cells in the immune system. People with this disease make an abnormal form of the gamma heavy chain, a protein used to make antibodies. This abnormal protein is overproduced by the body and can lead to abnormal cell growth. Gamma heavy chain disease mainly affects older adults with symptoms that may include swollen lymph nodes, an enlarged liver and spleen, and anemia. Some people with gamma heavy chain disease have no symptoms, while others have many symptoms and can develop an aggressive form of lymphoma. The cause of gamma heavy chain disease is unknown, but about one-third of people with this condition have an autoimmune disease. Diagnosis is based on finding high levels of gamma heavy chain in the blood, urine, and bone marrow. Treatment is focused on the symptoms and may include chemotherapy. Gamma heavy chain disease is one of three different types of heavy chain disease.[1][2][3][4]


The following list includes the most common signs and symptoms in people with gamma heavy chain disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of gamma heavy chain disease may include:[2][3]

Symptoms typically begin in adulthood, after age 40. About one-third of people with gamma heavy chain disease have an autoimmune condition such as rheumatoid arthritis or lupus. Some people with gamma heavy chain disease have no symptoms. Some people will develop an aggressive form of lymphoma.[2][3]


The causes or risk factors for gamma heavy chain disease are not known. About one-third of people with gamma heavy chain disease have an autoimmune condition.[2][3]


Gamma heavy chain disease is diagnosed based on the symptoms, a clinical exam, and laboratory tests to analyze the urine, blood, and bone marrow. A bone marrow biopsy may be done to remove a small piece of bone marrow for examination under the microscope.[1][2][4]


Treatment for gamma heavy chain disease is focused on managing the symptoms. People with symptoms are often treated using chemotherapy drugs. People without symptoms may be screened regularly for signs of cancer.[2][3]

Specialists involved in the care of someone with gamma heavy chain disease may include:

  • Hematologist
  • Immunologist
  • Oncologist

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for Healthcare Professionals provides more detailed information on heavy chain diseases.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gamma heavy chain disease. Click on the link to view a sample search on this topic.


  1. Bianchi G, Anderson KC, Harris NL, Sohani AR. The heavy chain diseases: clinical and pathologic features. Oncology (Williston Park). Jan 2014; 28(1):45-53. https://pubmed.ncbi.nlm.nih.gov/24683718.
  2. Ramasamy I, Rudzki Z. Two Cases of Gamma-Heavy Chain Disease and a Review of the Literature. Case Rep Hematol. Aug 12, 2018; 2018:4832619. https://pubmed.ncbi.nlm.nih.gov/30186642.
  3. Rajkumar SV. The heavy chain diseases. UpToDate. updated Sept. 18, 2020; https://www.uptodate.com/contents/the-heavy-chain-diseases.
  4. Gulli F, Napodano C, Pocino K, Cuccaro A, Hohaus S, Basile U. Heavy chain disease: our experience. Clin Chem Lab Med. Nov 27, 2017; 56(1):e10-e12. https://pubmed.ncbi.nlm.nih.gov/28665788.

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