Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF

Objective: To study the possible association between high levels of fetal haemoglobin(HbF) in β-thalassemia intermedia patients and HS-111 and 3`HS1 sequence variations.Materials and Methods: In this study, the 3' HS-1 and HS-111 regions of 30 ß-thalassaemiaintermedia patients (ß°/ß°) with high...

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Main Authors: Mohammad Hamid, Morteza Karimipoor, Sirous Zeinali, Mohammad taghi Akbari, Leila Kokabi, Frouzandeh Mahjoubi
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2010-01-01
Series:Cell Journal
Subjects:
Online Access:http://www.celljournal.org/library/upload/article/Hamid.pdf
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author Mohammad Hamid
Morteza Karimipoor
Sirous Zeinali
Mohammad taghi Akbari
Leila Kokabi
Frouzandeh Mahjoubi
author_facet Mohammad Hamid
Morteza Karimipoor
Sirous Zeinali
Mohammad taghi Akbari
Leila Kokabi
Frouzandeh Mahjoubi
author_sort Mohammad Hamid
collection DOAJ
description Objective: To study the possible association between high levels of fetal haemoglobin(HbF) in β-thalassemia intermedia patients and HS-111 and 3`HS1 sequence variations.Materials and Methods: In this study, the 3' HS-1 and HS-111 regions of 30 ß-thalassaemiaintermedia patients (ß°/ß°) with high levels of HbF, 21 ß-thalassemia major patientsand 40 normal Iranian individuals were analyzed by single-strand conformation polymorphism(SSCP) and polymerase chain reaction (PCR) sequencing.Results: Two nucleotide variations in 3' HS111 (-21A>G) and 3`HS1 (179C>T) wereidentified. The most frequent sequence variation was 3' HS111 (-21A) in the intermediapatients and 3`HS111 (-21G) in the major thalassemia patients. In contrast to the 3`HS1marker, both 3'HS111 A and G variants showed a correlation with each studied group.Conclusion: The HS111 marker in conjunction with other parameters could be used asappropriate genetic markers to discriminate β-thalassemia intermedia patients (β°/β°) withhigh levels of HbF from β-thalassemia major patients.
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spelling doaj.art-4fa4c59c988d4e51a075d49d84dff6302022-12-22T00:02:18ZengRoyan Institute (ACECR), TehranCell Journal2228-58062228-58142010-01-01114418423Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbFMohammad HamidMorteza KarimipoorSirous ZeinaliMohammad taghi AkbariLeila KokabiFrouzandeh MahjoubiObjective: To study the possible association between high levels of fetal haemoglobin(HbF) in β-thalassemia intermedia patients and HS-111 and 3`HS1 sequence variations.Materials and Methods: In this study, the 3' HS-1 and HS-111 regions of 30 ß-thalassaemiaintermedia patients (ß°/ß°) with high levels of HbF, 21 ß-thalassemia major patientsand 40 normal Iranian individuals were analyzed by single-strand conformation polymorphism(SSCP) and polymerase chain reaction (PCR) sequencing.Results: Two nucleotide variations in 3' HS111 (-21A>G) and 3`HS1 (179C>T) wereidentified. The most frequent sequence variation was 3' HS111 (-21A) in the intermediapatients and 3`HS111 (-21G) in the major thalassemia patients. In contrast to the 3`HS1marker, both 3'HS111 A and G variants showed a correlation with each studied group.Conclusion: The HS111 marker in conjunction with other parameters could be used asappropriate genetic markers to discriminate β-thalassemia intermedia patients (β°/β°) withhigh levels of HbF from β-thalassemia major patients.http://www.celljournal.org/library/upload/article/Hamid.pdfβ-ThalassemiaFetal HaemoglobinSingle-Strand Confirmation Polymorphism
spellingShingle Mohammad Hamid
Morteza Karimipoor
Sirous Zeinali
Mohammad taghi Akbari
Leila Kokabi
Frouzandeh Mahjoubi
Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
Cell Journal
β-Thalassemia
Fetal Haemoglobin
Single-Strand Confirmation Polymorphism
title Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
title_full Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
title_fullStr Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
title_full_unstemmed Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
title_short Molecular Analysis of HS-111 and 3`HS1 Variations in β-Thalassemia Intermedia Patients with High Levels of HbF
title_sort molecular analysis of hs 111 and 3 hs1 variations in β thalassemia intermedia patients with high levels of hbf
topic β-Thalassemia
Fetal Haemoglobin
Single-Strand Confirmation Polymorphism
url http://www.celljournal.org/library/upload/article/Hamid.pdf
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