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Disease Profile

Hemoglobin Zurich

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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X-linked
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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Hb-Zurich

Summary

Hemoglobin (Hb) Zurich is an inherited blood disorder. People with Hb Zurich have an abnormal form of Hb, a red blood cell (RBC) protein that binds to oxygen in the lungs. This abnormal Hb more readily binds to carbon monoxide (producing carboxyhemoglobin or COHb).[1] Normally the level of COHb is less than 1-2% in adults. People with Hb Zurich tend to have COHb levels above 3%.[2] The health effects of Hb Zurich tend to be mild compared to other inherited blood cell disorders.[3] Symptoms usually develop only when the body is stressed due to an infection or fever or when exposed to certain drugs. Symptoms develop as a result of the premature breakdown of RBC (hemolytic anemia). Click here to visit MedlinePlus.gov and view an illustration of hemoglobin.

Symptoms

People with Hemoglobin (Hb) Zurich do not tend to develop symptoms unless their red blood cells are exposed to certain chemicals, infections, or to stress.[2] People with hemoglobin Zurich should avoid sulfanilamide.[1] Some cases of Hb Zurich behave similarly to glucose-6-phosphate dehydrogenase (G6PD) in that they are especially sensitive to the oxidation of red blood cells.[2] These individuals may benefit from avoiding or limiting exposure to G6PD triggers, such as antimalarial drugs, aspirin, nitrofurantoin, nonsteroidal anti-inflammatory drugs (NSAIDs), Quinidine, Quinine, Sulfonamide, fava beans, and mothballs.

The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that can trigger hemolytic anemia.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.

Treatment

The most important aspect of management for hemoglobin (Hb) Zurich is to avoid agents that might trigger hemolytic anemia. Mild hemolytic anemia may not need treatment, as long as the condition doesn't worsen. Treatments for severe hemolytic anemia include blood transfusions, medicines, and plasmapheresis. Click here to visit the National Heart Lung and Blood Institute to learn more about treatment.

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.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemoglobin Zurich. Click on the link to view a sample search on this topic.

References

  1. Steinberg MH. Unstable hemoglobin variants. In: Basow M. UpToDate. Waltham, MA: UpToDate; 2014; Accessed 3/20/2014.
  2. Steinberg MH, Orget BG, Higgs DR, Veatherall DJ. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Oxford: Cambridge University; August 2009; Accessed 3/20/2014.
  3. Benz EJ Jr, Ebert BL. Hemoglobin Variants Associated With Hemolytic Anemia, Altered Oxygen Affinity, and Methemoglobinemias. In: Hoffman. Hematology: Basic Principles and Practice, 6th ed. 2012; Accessed 3/20/2014.
  4. Dugdale DC, Mason JR. Glucose-6-phosphate dehydrogenase deficiency . MedlinePlus. March 2010; https://www.nlm.nih.gov/medlineplus/ency/article/000528.htm. Accessed 10/11/2011.
  5. What is Hemolytic Anemia?. National Heart Lung and Blood Institute. April 2011; https://www.nhlbi.nih.gov/health/health-topics/topics/ha/. Accessed 3/20/2014.

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