A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment

Am J Hematol. 2013 Feb;88(2):158-9. doi: 10.1002/ajh.23364. Epub 2012 Dec 17.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / physiopathology
  • Craniofacial Abnormalities
  • DNA, Intergenic / genetics*
  • Delayed Diagnosis
  • Developmental Disabilities / etiology*
  • Developmental Disabilities / physiopathology
  • Diseases in Twins
  • Facies
  • Female
  • Gene Deletion*
  • Hemoglobin E / genetics*
  • Hemoglobin E / metabolism
  • Hemoglobins / genetics*
  • Hemoglobins / metabolism
  • Humans
  • Infant, Newborn
  • Muscular Atrophy / etiology
  • Muscular Atrophy / physiopathology
  • Premature Birth
  • Severity of Illness Index
  • Switzerland
  • Thalassemia / diagnosis
  • Thalassemia / genetics*
  • Thalassemia / physiopathology
  • Twins, Dizygotic

Substances

  • DNA, Intergenic
  • Hemoglobins
  • Hemoglobin E
  • hemoglobin B

Supplementary concepts

  • Facial Dysmorphism with Multiple Malformations