| Beta-thalassemia | |
|---|---|
| Other names | Microcytemia, beta type[1] |
 | |
| Beta thalassemia genetics, the picture shows one example of how beta thalassemia is inherited. The beta globin gene is located on chromosome 11. A child inherits two beta globin genes (one from each parent). | |
| Specialty | Hematology |
| Types | Thalassemia minor, intermediate and major[2] |
| Causes | Mutations in the HBB gene[1] |
| Diagnostic method | DNA analysis[3] |
| Treatment | Depends on type (see types) |
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000.[4] Beta thalassemias occur due to malfunctions in the hemoglobin subunit beta or HBB. The severity of the disease depends on the nature of the mutation.[5]
The body's inability to construct new beta-chains leads to the underproduction of HbA (adult hemoglobin).[6] The imbalance of alpha to beta globin chains leads to ineffective erythropoiesis, increased hemolysis, and deranged iron homeostasis.[7] Patients may require repeated blood transfusions throughout life to maintain sufficient hemoglobin levels. Consequently, patients may also develop severe problems associated with iron overload.[4]
- ^ a b Cite error: The named reference
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emedicine.medscape.comwas invoked but never defined (see the help page). - ^ Cite error: The named reference
matwas invoked but never defined (see the help page). - ^ a b Galanello, Renzo; Origa, Raffaella (21 May 2010). "Beta-thalassemia". Orphanet J Rare Dis. 5: 11. doi:10.1186/1750-1172-5-11. PMC 2893117. PMID 20492708.
- ^ Goldman, Lee; Schafer, Andrew I. (2015-04-21). Goldman-Cecil Medicine: Expert Consult — Online. Elsevier Health Sciences. ISBN 978-0-323-32285-0.
- ^ Carton, James (2012-02-16). Oxford Handbook of Clinical Pathology. OUP Oxford. ISBN 978-0-19-162993-8. Archived from the original on 2023-01-14. Retrieved 2020-10-25.
- ^ Kattamis A, Kwiatkowski JL, Aydinok Y (June 2022). "Thalassaemia". Lancet. 399 (10343): 2310–24. doi:10.1016/S0140-6736(22)00536-0. PMID 35691301.