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Beta Thalassemia Plus Structural Variants

MedGen UID:
459441
•Concept ID:
C2987215
•
Disease or Syndrome

Definition

A heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeta Thalassemia Plus Structural Variants

Recent clinical studies

Diagnosis

Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism.
Jorge SB, Melo MB, Costa FF, Sonati MF
Braz J Med Biol Res 2003 Nov;36(11):1471-4. Epub 2003 Oct 22 doi: 10.1590/s0100-879x2003001100004. PMID: 14576901
Screening cord blood for hemoglobinopathies and thalassemia by HPLC.
van der Dijs FP, van den Berg GA, Schermer JG, Muskiet FD, Landman H, Muskiet FA
Clin Chem 1992 Sep;38(9):1864-9. PMID: 1526026

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