National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hemoglobin SE disease


Other Names:
HbSE disease; Sickle cell - hemoglobin E disease; Sickle cell-hemoglobin E disease syndrome
Categories:
This disease is grouped under:
Hemoglobinopathy; Sickle cell disease associated with an other hemoglobin anomaly
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] 
Last updated: 5/18/2020
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]
Last updated: 5/18/2020
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. 
Last updated: 5/18/2020
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.
Last updated: 5/18/2020

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.
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
Last updated: 5/18/2020
The exact number of people with hemoglobin SE disease is unknown. In some parts of the world, it is fairly common. In certain parts in the middle east, for example, the prevalence is about 0.05%.[3]
Last updated: 5/18/2020

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  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.