Ignite Creation Date:
2024-06-16 @ 11:48 AM
Last Modification Date:
2024-10-26 @ 3:30 PM
Study NCT ID:
NCT06433570
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-05-29
First Post:
2024-05-23
Brief Title:
Detection of Krupple Like Factor -1KLF1 EKLF DNA Mutations in Beta Thalassemia Patients
Sponsor:
Assiut University
Organization:
Assiut University
Study Overview
Official Title:
Detection of Krupple Like Factor -1KLF1 EKLF DNA Mutations in Beta Thalassemia Patients
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Detection of KLF1 gene mutations in patients with beta thalassemia considering the alpha and beta molecular status of these patients
Study the relation between genotypic mutational status of KLF1 mutation with the level of Hb F and Hb A2 in the patients of beta thalassemia
Study the relation between genotypic mutational status of KLF1 mutation with the level of Hb F and Hb A2 in the patients of beta thalassemia
Detailed Description:
Thalassemias are inherited abnormalities in globin chain synthesis of hemoglobin and one of the most common single gene disorders in the world
β-Thalassemia is caused by reduced β or absent β0 synthesis of the β-globin chains of haemoglobin Three clinical and hematological conditions of increasing severity are recognized the β-thalassemia trait thalassemia intermedia and thalassemia major
The Erythroid Kruppel-like factor EKLF or KLF1 is a master regulator of terminal erythroid differentiation controlling expression of many key pathways and structures including cell division the cell membrane and cytoskeleton heme and globin synthesis
The KLF1 works as a key regulator of γ-globin to β-globin switch by up-regulation of PUM1 that binds to fetal γ globin mRNA impairing its stability and translation and by Bcl11a expression that represses γ-globin expression
Previous studies reported that KLF1 mutations have been identified in a variety of erythroid conditions like hereditary persistence of fetal hemoglobin Congenital dyserythropoietic anemia and borderline HbA2
An Indian study on KLF1 gene variations found a marginal significance in the thalassemia intermedia group 14 as against the thalassemia major group 20
Also a case report on a Chinese family with twin brothers both of whom had the same genotype of β0β0 reported that KLF1 mutations have a role in modulating the phenotypic severity of β-thalassemia
In our study where there is high incidence of beta thalassemia in Egypt we try to detect KLF1 mutations and its relation to clinical phenotype of these patients
β-Thalassemia is caused by reduced β or absent β0 synthesis of the β-globin chains of haemoglobin Three clinical and hematological conditions of increasing severity are recognized the β-thalassemia trait thalassemia intermedia and thalassemia major
The Erythroid Kruppel-like factor EKLF or KLF1 is a master regulator of terminal erythroid differentiation controlling expression of many key pathways and structures including cell division the cell membrane and cytoskeleton heme and globin synthesis
The KLF1 works as a key regulator of γ-globin to β-globin switch by up-regulation of PUM1 that binds to fetal γ globin mRNA impairing its stability and translation and by Bcl11a expression that represses γ-globin expression
Previous studies reported that KLF1 mutations have been identified in a variety of erythroid conditions like hereditary persistence of fetal hemoglobin Congenital dyserythropoietic anemia and borderline HbA2
An Indian study on KLF1 gene variations found a marginal significance in the thalassemia intermedia group 14 as against the thalassemia major group 20
Also a case report on a Chinese family with twin brothers both of whom had the same genotype of β0β0 reported that KLF1 mutations have a role in modulating the phenotypic severity of β-thalassemia
In our study where there is high incidence of beta thalassemia in Egypt we try to detect KLF1 mutations and its relation to clinical phenotype of these patients
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None