Iron refractory iron deficiency anemia due to mutations in the negative regulator Matriptase 2 TMPRSS6 gene down regulating Hepcidin in Palestinian subjects

العناوين الأخرى

فقر الدم الحديدي المستعصي الناتج عن وجود طفرات في المنظم السلبي Matriptase 2 TMPRSS6 gene لل Hepcidin في فلسطين

مقدم أطروحة جامعية

Arar, Latifah Husayn

مشرف أطروحة جامعية

Farraj, Muhammad
Zahir, Yaqub

الجامعة

جامعة بيرزيت

الكلية

كلية الصيدلة و التمريض و المهن الصحية

دولة الجامعة

فلسطين (الضفة الغربية)

الدرجة العلمية

ماجستير

تاريخ الدرجة العلمية

2018

الملخص الإنجليزي

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.

التخصصات الرئيسية

الصحة العامة

الموضوعات

• فلسطين
• أنيميا عوز الحديد
• التطفير

عدد الصفحات

99

قائمة المحتويات

• APA
• MLA
• AMA

لغة النص

الإنجليزية

نوع البيانات

رسائل جامعية

رقم السجل

BIM-958210