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Reduced beta/alpha synthesis ratio

MedGen UID:
868732
Concept ID:
C4023137
Finding
HPO: HP:0011906

Definition

A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Reduced beta/alpha synthesis ratio

Conditions with this feature

beta Thalassemia
MedGen UID:
2611
Concept ID:
C0005283
Disease or Syndrome
Beta-thalassemia (ß-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that does not require regular treatment with blood transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.
Thalassemia, beta+, silent allele
MedGen UID:
349988
Concept ID:
C1861232
Disease or Syndrome

Recent clinical studies

Diagnosis

Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H
Cold Spring Harb Mol Case Stud 2017 Nov;3(6) Epub 2017 Nov 21 doi: 10.1101/mcs.a001941. PMID: 28667000Free PMC Article

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