Hematologic features of beta-globin gene mutation type (?o) with homozygous beta thalassemia

β-Tthalassemia is common genetic disorders in Turkey that characterized by the reduced synthesis (β+) or absence (βo) of the β-globin chains in the HbA molecule. In this study, we aimed to determine the effect of the mutation type of the β-globin gene on hematological values in homozygous β-thalassemia. This retrospective study was undertaken by Prenatal Diagnosis Centres of Cukurova University Medical Biochemistry at Adana. We evaluated 60 homozygous by implementing DNA sequencing analysis for mutations undetectab­le by conventional methods. 30 patients with βo [FSC 44/ C-A] mutations and the other 30 patients with βo [(IVS-II-1(G>A), CD39 (C>T), Cd8 (-AA) Cd39 C> T and CD36/37 (–T)] mutations, totally 60 patients were included in the study. Erythrocyte indices, HbF, HbA2 levels were compared between the two groups. FSC 44/(-C) mutations were detected in patients. Hb, Hct, MCV in this group values were statistically lower than in patients with other detected mutations (P < 0.05). Between the two groups, there is no statistically different RBC, MCH, MCHC, HbF, HbA2 levels (P ˃ 0.05). For the first time in this study, it was found that the Hb, Hct and MCV value of the persons who carried the FSC 44/(-C) mutation were significantly lower than the persons who carrying other mutations. Between the two groups, there was no statistical difference in RBC, MCH, MCHC, HbF and HbA2 levels. Awareness of FSC/44 mutation, which may have a heterogeneous clinical presentation, is required. We herein present the hematologic findings of a Turkish population carrying this mutation. This will also help to make a diagnosis

Effect of pregnancy on HbA(2) value in women with heterozygous beta- thalassemia

WOS: 000458742100039

Human Leukocyte Antigens, Structure and Functions

Major histocompatibility complex (MHC) is called Human Leukocyte Antigens (HLA) in humans. This region consists of four main groups which are the MHC Class I (HLA-I, -B, -C, -E, -F, -G), MHC Class II (HLADR, -DP, -DQ, -DO, DN), MHC Class III (C2, C4A, C4B, PF,TNF-H,I) and, MHC Class IV (SK12W, Hsp70, AIF-I IC7 B144, LTB, TNF, LTA, IkBL, BATI, MICA, MICB) antigens. Class IV region has also been referred to "inflammatory region".HLA molecules present antigens to T lymphocytes and initiate a specific immune response. Class I HLA molecules present antigens to CD8+ cytotoxic T cells while Class II Molecules present to CD4+ hepler T cells. Class III HLA molecules are not involved in antigen presentation. Class III and IV HLA molecules are primarily important in inflammation an autoimmune diseases. HLA are the most polymorphic genes of the genome . The most important field of use is the histocompatibility examination in tissue and organ transplantation Lately, the most studied subject is the association of HLA antigens with diseases. Certain HLA types are more frequent in some diseases In this review, it is given the information about structural functional features of HLA molecules and their clinical usage. Also, here is to give brief overview of HLA polymorphism and association of HLA antigens with diseases [Archives Medical Review Journal 2014; 23(3.000): 387-397

Regulation of Nrf2 and Nrf2-related proteins by ganoderma lucidum in hepatocellular carcinoma

Background HCC is among the most common cancer. Ganoderma lucidum (G.lucidum) has been essential in preventing and treating cancer. The Nrf2 signaling cascade is a cell protective mechanism against further damage, such as cancer development. This signaling pathway upregulates the cytoprotective genes and is vital in eliminating xenobiotics and reactive oxygen. This study aimed to show the potential cytotoxic activity of G. lucidum aqueous extract in HCC. Methods and results MTT assay was used to detect cell viability. Nrf2-related proteins were measured by western blotting, and the flow cytometry method assayed cell population in different cycle phases. Cell viability was 49% and 47% following G. lucidum extract at 100 mu g/ml at 24 and 48 h treatments, respectively. G. lucidum extract (aqueous, 100 or 50 mu g/ml) treatments for 24, 48, or 72 h were able to significantly change the cytoplasmic/nuclear amount of Nrf2 and HO-1, NQO1 protein levels. Moreover, at both concentrations, arrest of the G0/G1 cell cycle was stimulated in HCC. Conclusions The activation of the Nrf2 signaling pathways seems to be among the mechanisms underlining the protective and therapeutic action of G. lucidum against HCC.Ege UniversitesiThis work was supported financially by Ege Universitesi