Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...

abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...

background nucleus(t)ide analogs (nas), containing lamivudine (lmv), adefovir dipivoxil (adv), endeavor (etv), telbivudine (ldt), and tenofovir (tdf) are widely used for the treatment of chronic hepatitis b (chb), but long term anti-hepatitis b virus (hbv) therapy with nas may give rise to the emergence of drug-resistant viral mutants. objectives this study aimed to find and identify some new r...

background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...