Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations ...in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.
Full text
Available for:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Objective: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major. Methods: Our study included 33 ...patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed. The HFE polymorphisms (H63D, C282Y, S65C, Q283P, E168Q, E168X, W169X, P160delC, Q127H, H63H, V59M, and V53M) were studied using polymerase chain reaction. Results: The H63D polymorphism was detected in six patients with beta-thalassemia major. Five patients were heterozygous for the H63D polymorphism, while one was homozygous. There were no other polymorphisms. There was no relationship between the HFE polymorphisms and either the serum ferritin levels or the T2-weighted MRI values (P > .05). Moreover, conventional echo and tissue Doppler echo findings were not correlated with the HFE polymorphisms. Pulmonary vein atrial reversal flow velocity, which is a manifestation of diastolic dysfunction measured with pulse wave echo, was higher in the patients with HFE polymorphisms (P = .036). Conclusions: The HFE polymorphisms had no effect on cardiac iron overload. However, pulmonary vein atrial reversal flow velocity measurements can provide important information for detecting diastolic dysfunction during cardiac follow-up of patients with HFE polymorphisms. Studies with more patients are needed to provide more information regarding this matter.
Full text
Available for:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Load filters
No result was selected!
Please select the results that you wish to export.
The search was successfully saved.
Editing
The search could not be saved.
Saved searches can be viewed in the list My searches.
The changes made to the saved search were saved successfully.
Save search
Shelf entry
No result was selected!
Adding material to shelf was successful.
Adding material to shelf was partly successful.
Adding material to shelf failed completely.
It was not necessary to add the material to the shelf.
Please select the results that you want to put on shelf!
On shelf the following records have been successfully added:
On shelf the following records have been successfully added: