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

Mohammad Hamid (1, 2) , Frouzandeh Mahjoubi (2) , Mohammad Taghi Akbari (2, 3) , Sirous Zeinali (1) , Morteza Karimipoor (1)

1 Biotechnology Research Center
2 Clinical Genetics Department
3 Department of Medical Genetics, School of Medical Sciences

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.

Keywords: Cretan type; nondeletional; hereditary persistence; fetal hemoglobin; Iranian family

Domains: Human genetics

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, 2009, 88 (12), pp.1267-8. ⟨10.1007/s00277-009-0756-0⟩. ⟨pasteur-00751227⟩