The Cretan type of nondeletional hereditary persistence of fetal hemoglobin in an Iranian family
| Autor: | Frouzandeh Mahjoubi, Mohammad Esmaeil Akbari, Morteza Karimipoor, Mohammad Hamid, Sirous Zeinali |
|---|---|
| Přispěvatelé: | Biotechnology Research Center, Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Clinical Genetics Department, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-National Institute of Genetic Engineering and Biotechnology (NIGEB), Department of Medical Genetics, School of Medical Sciences, Tarbiat Modaras University, Mohammad Hamid, Frouzandeh Mahjoubi, Mohammad Taghi Akbari, Sirous Zeinali, Morteza Karimipoor, Réseau International des Instituts Pasteur (RIIP)-National Institute of Genetic Engineering and Biotechnology (NIGEB)-Institut Pasteur d'Iran, Réseau International des Instituts Pasteur (RIIP) |
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Adult
fetal hemoglobin Iranian family MESH: Mutation Hereditary persistence of fetal hemoglobin Thalassemia DNA Mutational Analysis beta-Globins Biology Iran medicine.disease_cause hereditary persistence MESH: gamma-Globins 03 medical and health sciences nondeletional hemic and lymphatic diseases Fetal hemoglobin medicine Humans gamma-Globins Gene conversion MESH: DNA Mutational Analysis Gene Cretan type 030304 developmental biology Genetics 0303 health sciences Mutation MESH: Humans Greece MESH: Fetal Hemoglobin 030306 microbiology Promoter MESH: Adult MESH: beta-Globins Hematology General Medicine medicine.disease 3. Good health Arabs DNA binding site [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics MESH: Greece MESH: Iran MESH: Arabs Female MESH: Female |
| Zdroj: | Annals of Hematology Annals of Hematology, Springer Verlag, 2009, 88 (12), pp.1267-8. ⟨10.1007/s00277-009-0756-0⟩ |
| ISSN: | 0939-5555 1432-0584 |
| DOI: | 10.1007/s00277-009-0756-0⟩ |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink