Beta thalassemia

Beta-thalassemia
Other namesMicrocytemia, 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).
SpecialtyHematology
TypesThalassemia minor, intermediate and major[2]
CausesMutations in the HBB gene[1]
Diagnostic methodDNA analysis[3]
TreatmentDepends 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]

HBB blockage over time leads to decreased beta-chain synthesis. The body's inability to construct new beta-chains leads to the underproduction of HbA (adult hemoglobin).[6] Reductions in HbA available overall to fill the red blood cells in turn leads to microcytic anemia. Microcytic anemia ultimately develops in respect to inadequate HBB protein for sufficient red blood cell functioning.[7] Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. [citation needed] Repeated blood transfusions cause severe problems associated with iron overload.[8]

  1. ^ a b Cite error: The named reference genh was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference emedicine.medscape.com was invoked but never defined (see the help page).
  3. ^ Cite error: The named reference mat was invoked but never defined (see the help page).
  4. ^ 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.
  5. ^ Goldman, Lee; Schafer, Andrew I. (2015-04-21). Goldman-Cecil Medicine: Expert Consult - Online. Elsevier Health Sciences. ISBN 9780323322850.
  6. ^ Carton, James (2012-02-16). Oxford Handbook of Clinical Pathology. OUP Oxford. ISBN 9780191629938. Archived from the original on 2023-01-14. Retrieved 2020-10-25.
  7. ^ Perkin, Ronald M.; Newton, Dale A.; Swift, James D. (2008). Pediatric Hospital Medicine: Textbook of Inpatient Management. Lippincott Williams & Wilkins. ISBN 9780781770323.
  8. ^ Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5 (1): 11. doi:10.1186/1750-1172-5-11. ISSN 1750-1172. PMC 2893117. PMID 20492708.