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Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Gunay AliyevaChingiz AsadovTahira MammadovaShirkhan MusayevEldar AbdulalimovSurmaya GafarovaYegana Guliyeva
Published in: Hemoglobin (2018)
Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with data of the heterozygous parents.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • prognostic factors
  • sickle cell disease
  • early onset
  • emergency department
  • patient reported