The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family.

Abstract : Dear Editor, The increase of fetal hemoglobin (HbF), in adult life, is mainly due to large deletions within β-globin cluster in hereditary persistence of fetal hemoglobin (HPFH) and δβ- thalassemia or in some cases of nondeletional HPFH (nd- HPFH) by mutations in promoter region of γ-globin genes [1-3]. Several nd-HPFH mutations have been reported; most of these mutations occur in transcription factor binding sites, creating new factor binding motifs or disrupting the existing ones [2]. The Cretan type of nd- HPFH (Aγ-158 C>T) is characterized by slightly elevated HbF levels (2.9-5.1%) and normal hematological indices [4]. This mutation has resulted from two independent gene conversion events [4, 5]. It is identical to Gγ-globin gene XmnI polymorphism (Gγ-158 C>T) which also occurs in healthy individuals.
Document type :
Journal articles
Complete list of metadatas

Cited literature [6 references]  Display  Hide  Download

https://hal-riip.archives-ouvertes.fr/pasteur-00751227
Contributor : Mohammad Hamid <>
Submitted on : Tuesday, November 13, 2012 - 8:43:05 AM
Last modification on : Monday, October 8, 2018 - 5:44:07 PM
Long-term archiving on : Thursday, February 14, 2013 - 3:40:32 AM

File

fulltext2.pdf
Publisher files allowed on an open archive

Identifiers

Collections

Citation

Mohammad Hamid, Frouzandeh Mahjoubi, Mohammad Taghi Akbari, Sirous Zeinali, Morteza Karimipoor. The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family.. Annals of Hematology, Springer Verlag, 2009, 88 (12), pp.1267-8. ⟨10.1007/s00277-009-0756-0⟩. ⟨pasteur-00751227⟩

Share

Metrics

Record views

120

Files downloads

249