INTRODUCTION The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey. MATERIALS AND METHODS 106 pediatric patients were analysed for β-globin gene mutations by...

β-thalassemias result from diminished β-globin synthesis and are associated with ineffective erythropoiesis and secondary iron overload caused by inappropriately low levels of the iron regulatory hormone hepcidin. The serine protease TMPRSS6 attenuates hepcidin production in response to iron stores. Hepcidin induction reduces iron overload and mitigates anemia in murine models of β-thalassemia ...

Moyamoya disease is a cerebrovascular disorder with unknown cause characterized by the occlusion of the bilateral internal carotid arteries (ICA) and proximal segments of ICA.1,2 On the other hand, moyamoya syndrome (MMS) is a rare form of this condition with underlying several pathologies including hematologic disorders, congenital syndromes, vascular malformations or vasculitis after irradiat...

Patients with thalassemia major are considered to have high erythropoietin (Epo) activity.' However, Hammond et a1 reported that thalassemic patients had much less serum Epo activity compared with patients with hypoplastic anemia.* Determination of serum Epo levels in 32 patients from our clinic with homozygous p-thalassemia major and intermedia showed that Epo activity was not significantly hi...

conclusions the etiology of pah in thalassemia is multifactorial such as inflammatory mediators. also, the absence of the spleen plays an important role in developing a high trv and pah. results average age of the patients was 21.15 ± 6.68 years. no significant difference was observed in the pap between the 2 groups of thalassemia major and intermedia and also the 2 sex groups. indeed, 6.6% of ...

Patients with thalassemia major are considered to have high erythropoietin (Epo) activity.' However, Hammond et a1 reported that thalassemic patients had much less serum Epo activity compared with patients with hypoplastic anemia.* Determination of serum Epo levels in 32 patients from our clinic with homozygous p-thalassemia major and intermedia showed that Epo activity was not significantly hi...

Patients with thalassemia major are considered to have high erythropoietin (Epo) activity.' However, Hammond et a1 reported that thalassemic patients had much less serum Epo activity compared with patients with hypoplastic anemia.* Determination of serum Epo levels in 32 patients from our clinic with homozygous p-thalassemia major and intermedia showed that Epo activity was not significantly hi...