Iron refractory iron deficiency anemia due to mutations in the negative regulator Matriptase 2 TMPRSS6 gene down regulating Hepcidin in Palestinian subjects
Other Title(s)
فقر الدم الحديدي المستعصي الناتج عن وجود طفرات في المنظم السلبي Matriptase 2 TMPRSS6 gene لل Hepcidin في فلسطين
Dissertant
Thesis advisor
University
Birzeit University
Faculty
Faculty of Pharmacy, Nursing and Health Professions
University Country
Palestine (West Bank)
Degree
Master
Degree Date
2018
English Abstract
Maintaining iron homeostasis within specific levels is important for normal physiological function.
Deviation from these levels leads to systemic iron disorders.
Hepcidin is the key element that regulates systemic iron homeostasis.
Positive and negative regulators of this hormone attribute greatly in maintaining hepcidin within normal ranges depending on serum iron levels and iron stores under normal physiologic conditions; mutations of which results in iron disorders.
The negative regulator of hepcidin, matriptase 2 (encoded from the gene TMPRSS6) is a type 2 transmembrane serine protease.
Mutations in this gene results in microcytic, hypochromic anemia that doesn’t respond to oral iron and only partially respond to parenteral administration; a condition termed iron refractory iron deficiency anemia (IRIDA).
Low iron absorption and decreased iron release from stores was reported due to abnormally elevated levels of hepcidin.
In this research, 20 IRIDA patients and 20 age and sex matched healthy individuals were recruited for TMPRSS6 gene screening for polymorphisms using the melting analysis technique.
The subjects were also tested for iron parameters and hepcidin.
All iron parameters in the recruited patients were significantly lower than the control group; however, Hepcidin and TIBC were significantly higher.
Parenteral iron treatment did partially treat the anemia.
However, hepcidin level was not affected by the state of treatment among subjects.
When screening all of the 18 exons of the gene using the melting analysis technique, the patients presented with distinct melting temperatures that were not present in the control.
These distinct melting patterns may represent pathogenic polymorphisms that need to be confirmed and analyzed by sequencing the exons where the distinct melting pattern was presented.
Main Subjects
Topics
No. of Pages
99
Table of Contents
Table of contents.
Abstract.
Abstract in Arabic.
Chapter One : Introduction.
Chapter Two : Literature review.
Chapter Three : Materials and methods.
Chapter Four : Results.
Chapter Five : Discussion.
Chapter Six : Conclusions and recommendations.
References.
American Psychological Association (APA)
Arar, Latifah Husayn. (2018). Iron refractory iron deficiency anemia due to mutations in the negative regulator Matriptase 2 TMPRSS6 gene down regulating Hepcidin in Palestinian subjects. (Master's theses Theses and Dissertations Master). Birzeit University, Palestine (West Bank)
https://search.emarefa.net/detail/BIM-958210
Modern Language Association (MLA)
Arar, Latifah Husayn. Iron refractory iron deficiency anemia due to mutations in the negative regulator Matriptase 2 TMPRSS6 gene down regulating Hepcidin in Palestinian subjects. (Master's theses Theses and Dissertations Master). Birzeit University. (2018).
https://search.emarefa.net/detail/BIM-958210
American Medical Association (AMA)
Arar, Latifah Husayn. (2018). Iron refractory iron deficiency anemia due to mutations in the negative regulator Matriptase 2 TMPRSS6 gene down regulating Hepcidin in Palestinian subjects. (Master's theses Theses and Dissertations Master). Birzeit University, Palestine (West Bank)
https://search.emarefa.net/detail/BIM-958210
Language
English
Data Type
Arab Theses
Record ID
BIM-958210
