Alpha-thalassemia

Alpha-thalassemia
Other namesα-thalassaemia
Alpha-thalassemia inheritance pattern
SpecialtyHematology Edit this on Wikidata
SymptomsJaundice, Fatigue[1]
CausesDeletions of chromosome 16p.[2]
Diagnostic methodHaemoglobin electrophoresis[3]
TreatmentBlood transfusion, possible splenectomy[1][4]

Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1[5] and HBA2.[6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood.[7] Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction. The degree of impairment is based on which clinical phenotype is present (how many genes are affected).[3]

  1. ^ a b Cite error: The named reference gene was invoked but never defined (see the help page).
  2. ^ Cite error: The named reference lip was invoked but never defined (see the help page).
  3. ^ a b Cite error: The named reference emed was invoked but never defined (see the help page).
  4. ^ Cite error: The named reference com was invoked but never defined (see the help page).
  5. ^ Online Mendelian Inheritance in Man (OMIM): Hemoglobin—Alpha locus 1; HBA1 - 141800
  6. ^ Online Mendelian Inheritance in Man (OMIM): Hemoglobin—Alpha locus 2; HBA2 - 141850
  7. ^ Lanzkowsky's Manual Of Pediatric Hematology And Oncology 6th Edition ( 2016).