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Disease Profile

Hemoglobin SE disease

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)

HbSE disease; Sickle cell hemoglobin E disease; Sickle cell-hemoglobin E disease syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

Hemoglobin SE disease (HbSE) is an inherited condition affecting the part of the blood that carries oxygen known as hemoglobin. People with HbSE have hemoglobin that doesn't work efficiently. Symptoms usually develop in early adulthood. They may include mild anemia, enlarged spleen, reduced blood flow to the joints, and painful episodes due to blocked blood vessels. Many people with this condition have no symptoms. HbSE is caused by genetic changes (DNA variants) in the HBB gene that cause it to not work correctly. It is inherited in an autosomal recessive pattern. This condition is diagnosed based on a clinical exam, the symptoms, and through blood tests that look for specific types of hemoglobin. Genetic testing may also be helpful. Many people with HbSE do not need treatment, while others need management of their specific symptoms.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with hemoglobin SE 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 may include:[1][2][3]

  • Anemia
  • Reduced blood flow to the hip and shoulder (avascular necrosis)
  • Enlarged spleen
  • Breathing problems and chest pain (acute chest syndrome)
  • Pain episodes caused by small blocked blood vessels

Many people with Hemoglobin SE disease have no symptoms. Some people will develop symptoms starting in late childhood or early adulthood. Some of these medical complications, especially acute chest syndrome can be serious.[1]

Cause

Hemoglobin SE disease is due to two copies of a HBB gene that are not working correctly.[1] Genetic changes known as DNA variants can impact how genes work. Pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

Diagnosis

Hemoglobin SE disease is diagnosed based on a clinical exam, the symptoms and the results of blood tests looking for abnormal hemoglobin.[1][2] Genetic testing may also be helpful. Some states in the US screen for hemoglobin diseases on the newborn screen.

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

There is no specific treatment for hemoglobin SE disease. Treatment is based on managing the symptoms. Many people with this condition do not require treatment.[1][2]

Specialists who may be involved in the care of someone with hemoglobin SE disease include: 

  • Hematologist
  • Medical geneticist

References

  1. Masiello D, Heeney MM, Adewoye AH, Eung SH, Luo H-Y et al. Hemoglobin SE disease: a concise review. Am J Hematol. 2007; 82(7):643-649. https://pubmed.ncbi.nlm.nih.gov/17278112.
  2. Knox-Macaulay HH, Ahmed MM, Gravell D, Al-Kindi S, Ganesh A. Sickle cell-haemoglobin E (HbSE) compound heterozygosity: a clinical and haematological study. Int J Lab Hematol. 2007; 29(4):292-301. https://pubmed.ncbi.nlm.nih.gov/17617080.
  3. Baciu P, Yang C, Fantin A, Darnley-Fisch D, Desai U. First Reported Case of Proliferative Retinopathy in Hemoglobin SE Disease. Case Rep Ophthalmol Med. 2014;2014:782923.. 2014; 2014:782923. https://pubmed.ncbi.nlm.nih.gov/25210638.
  4. Smith A, Cooper B, Guileyardo J, Mora A Jr. Unrecognized hemoglobin SE disease as microcytosis. Proc (Bayl Univ Med Cent).. 2016; 29(3):309-310. https://pubmed.ncbi.nlm.nih.gov/27365881.
  5. Vichinsky E. Hemoglobin E syndromes. Hematology Am Soc Hematol Educ Program. 2007; 79-83. https://pubmed.ncbi.nlm.nih.gov/18024613.

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