BACKGROUND Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin. MATERIAL AND METHODS At p...

OBJECTIVES The chronic microcytic anaemia of rheumatoid arthritis (RA) occurs despite the presence of adequate reticulo-endothelial iron stores. The red cell microcytosis is evidence of impaired haemoglobin production. This study has examined possible abnormalities of erythroid haem biosynthesis that may contribute to the anaemia. METHODS 5-Aminolaevulinate (ALA) synthase and ferrochelatase a...

Most gastrointestinal stromal tumors (GISTs) harbor a gain-of-function mutation in the Kit receptor. GIST patients treated with the tyrosine kinase inhibitor imatinib frequently develop imatinib resistance as a result of second-site Kit mutations. To investigate the consequences of second-site Kit mutations on GIST development and imatinib sensitivity, we engineered a mouse model carrying in th...

Microcytic anemia is the most commonly encountered anemia in general medical practice. Nutritional iron deficiency and beta thalassemia trait are the primary causes in pediatrics, whereas bleeding disorders and anemia of chronic disease are common in adulthood. Microcytic hypochromic anemia can result from a defect in globin genes, in heme synthesis, in iron availability or in iron acquisition ...

BACKGROUND Co-inheritance of β- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and β-thalassemia in screening programs. Here we report the co-inheritance of β- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A₂ (HbA₂) level. METHODS Genomic DNA extraction, ampl...

Previous communications from this laboratory (l-7) have demonstrated that swine maintained on a highly purified diet deficient in pyridoxine develop a severe anemia which is characterized by microcytosis, slight hypochromia, and an increase in polychromatophilia, reticulocytes, and nucleated red cells in the blood. There is a marked hyperferremia, normoblastic bone marrow hyperplasia, myelin de...

JAK2 inhibition therapy is used to treat patients suffering from myeloproliferative neoplasms (MPN). Conflicting data on this therapy are reported possibly linked to the types of inhibitors or disease type. Therefore, we decided to compare in mice the effect of a JAK2 inhibitor, Fedratinib, in MPN models of increasing severity: polycythemia vera (PV), post-PV myelofibrosis (PPMF) and rapid post...

To the Editor, I am writing this letter concerning the “Clinical Picture in Hematology” entitled “Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia” by Shweta et al. in a recent issue of this journal [1]. Although we have seen several cases of zinc and iron deficiency with geophagia, hepatosplenomegaly, growth retardation, and hypogonadism (Tayanç-Reimann-Prasad synd...

The Pim-1 proto-oncogene encodes a highly conserved serine/threonine phosphokinase which is predominantly expressed in hematopoietic organs and gonads in mammals. Overexpression of Pim-1 predisposes to lymphomagenesis in mice. To develop a further understanding of Pim-1 in molecular terms, as well as in terms of its potential role in hematopoietic development, we have generated mice deficient i...

OBJECTIVE To assess the relationship between being beta globin gene carrier and developing insulin resistance. METHODS This study was conducted on 164 subjects including 82 healthy ones and 82 patients with beta thalassemia minor (microcytosis (MCV <80 fl) and hypochromia (MCH <25 pg) and HbA2 ≥ 3.5% using HPLC). Fasting blood glucose (FBS) values of 100-125 mg/dl were considered as impaired ...