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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemoglobin sickle-beta thalassemia


Other Names for this Disease

  • Hb S beta-thalassemia
  • Sickle beta thalassemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of hemoglobin sickle-beta thalassemia?

Symptoms of hemoglobin sickle-beta thalassemia vary in severity depending on the beta thalassemia mutation inherited, which controls the amount of normal beta globin produced in the body. Beta globin is a component of hemoglobin, which is a protein in the red blood cells that carries oxygen.[1]

When no beta globin is produced by the HBB gene (called sickle cell-beta zero thalassemia), the condition is almost identical to sickle cell disease. These patients may have irreversibly sickled red blood cells, severe anemia, and frequent sickle cell crisis. When some beta globin is produced by the HBB gene (called sickle cell-beta plus thalassemia), the condition is less severe.[2]
Last updated: 4/14/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Hemoglobin sickle-beta thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aseptic necrosis -
Cholelithiasis -
Congenital hypoplastic anemia -
Cyanosis -
Heinz body anemia -
Hematuria -
Hemolytic anemia -
Impaired renal concentrating ability -
Increased red cell sickling tendency -
Jaundice -
Macrocytic hemolytic disease -
Microcytic anemia -
Osteomyelitis -
Persistence of hemoglobin F -
Polycythemia -
Priapism -
Splenomegaly -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Beta Thalassemia. Cooley's Anemia Foundation. http://www.cooleysanemia.org/updates/pdf/Beta_Thalassemia.pdf. Accessed 4/14/2011.
  2. Bender MA & Hobbs W. Sickle Cell Disease. GeneReviews. May 17, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1377/. Accessed 12/20/2012.


Other Names for this Disease
  • Hb S beta-thalassemia
  • Sickle beta thalassemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.