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GENETIC VARIATIONS OF IRON REGULATORY PROTEINS: FERROPORTIN-1(-8CG), TMPRSS6 (RS855791) AND HEMOJUVELIN (I222N AND G320V) WITHIN Β-THALASSEMIA MAJOR PATIENTS
Author(s):
Nesrine El-Gharbawi
,
Nesrine El-Gharbawi
Affiliations:
Clinical and chemical pathology,Cairo University,Cairo,Egypt
Iman Shaheen
,
Iman Shaheen
Affiliations:
Clinical and chemical pathology,Cairo University,Cairo,Egypt
Mona Hamdy
,
Mona Hamdy
Affiliations:
Pediatrics,Cairo University,Cairo,Egypt
Somaya Elgawhary
,
Somaya Elgawhary
Affiliations:
Clinical and chemical pathology,Cairo University,Cairo,Egypt
Mohamed Samir
,
Mohamed Samir
Affiliations:
Cardiology,Cairo University,Cairo,Egypt
Baher Matta Hanna Matta Hanna
,
Baher Matta Hanna Matta Hanna
Affiliations:
Pediatrics,Cairo University,Cairo,Egypt
Eman Yousief Ali
,
Eman Yousief Ali
Affiliations:
Clinical and chemical pathology,Fayoum University,Fayoum,Egypt
Eman A. Youssef
Eman A. Youssef
Affiliations:
Clinical and chemical pathology,Cairo University,Cairo,Egypt
EHA Library. Shaheen I. 06/09/21; 324489; PB1818
Iman Shaheen
Iman Shaheen
Contributions
PDF Abstract
Abstract

Abstract: PB1818

Type: Publication Only

Session title: Thalassemias

Background

β-thalassemia represents one of the most common human genetic

disorders. The standard line of therapy is to combine regular blood transfusion with

effective iron chelation, however iron overload remains a major cause of morbidity

and mortality. Iron regulatory proteins and their genetic variants together with

changes in hepcidin levels in thalassemic patients could affect the disease

manifestations.

 

Aims
 

The aim of this work was to study genetic variations of ferroportin-1(-8CG),

TMPRSS6 (rs855791) and hemojuvelin (HJV I222N and G320V) within β-

thalassemia major patients.

 

Methods


tial  


Polymerase chain reaction Restriction Fragment Length Polymorphism

(PCR RFLP) analysis was used to study the four mentioned polymorphisms in

comparison to fifty normal control subjects, to assess their poten

Results
Liver Iron Concentration (LIC) was significantly higher in patients harboring the homomutant FPN1 (GG) genotype compared to those with the wild genotype, Pulmonary artery pressure (PAP) was significantly higher in patients harboring the mutant FPN1 genotypes. MRI cardiac T2* was significantly lower among patients with the homomutant HJV I222N (AA) genotype.

Conclusion
 

Our results suggest that genetic variants in iron regulatory proteins could

alter the manifestations of iron overload thus resulting in different clinical phenotypes

of thalassemic patients.

 

Keyword(s): Ferritin, Β-thalassemia

Abstract: PB1818

Type: Publication Only

Session title: Thalassemias

Background

β-thalassemia represents one of the most common human genetic

disorders. The standard line of therapy is to combine regular blood transfusion with

effective iron chelation, however iron overload remains a major cause of morbidity

and mortality. Iron regulatory proteins and their genetic variants together with

changes in hepcidin levels in thalassemic patients could affect the disease

manifestations.

 

Aims
 

The aim of this work was to study genetic variations of ferroportin-1(-8CG),

TMPRSS6 (rs855791) and hemojuvelin (HJV I222N and G320V) within β-

thalassemia major patients.

 

Methods


tial  


Polymerase chain reaction Restriction Fragment Length Polymorphism

(PCR RFLP) analysis was used to study the four mentioned polymorphisms in

comparison to fifty normal control subjects, to assess their poten

Results
Liver Iron Concentration (LIC) was significantly higher in patients harboring the homomutant FPN1 (GG) genotype compared to those with the wild genotype, Pulmonary artery pressure (PAP) was significantly higher in patients harboring the mutant FPN1 genotypes. MRI cardiac T2* was significantly lower among patients with the homomutant HJV I222N (AA) genotype.

Conclusion
 

Our results suggest that genetic variants in iron regulatory proteins could

alter the manifestations of iron overload thus resulting in different clinical phenotypes

of thalassemic patients.

 

Keyword(s): Ferritin, Β-thalassemia

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