Iron-Refractory Iron Deficiency Anemia

Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the ``atypical{''} microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field

Reduction of hepatitis B seroprevalence in blood banking units by combined utilization of self-exclusion forms and clinical evaluation of blood donation candidates in Turkey

In this retrospectively designed study, we evaluate the influence of the permanence and qualifications of health-care professionals on blood disposal rates due to hepatitis seropositivity. We observed a decrease of 44.2% in the number of blood units being rejected due to the donor's hepatitis B seropositivity in the second study period in which self-exclusion forms and where blood donation candidates were evaluated by a family physician. However, a similar decrease of the disposal rate due to hepatitis C seropositivity was not observed. This is especially important in countries which cannot afford many of the expensive modern laboratory tests. A comprehensive evaluation of self-exclusion forms and a brief examination prior to donation will greatly increase transfusion safety. Unfortunately, there are blood banks in Turkey which employ no physicians at all

Familial Hemophagocytic Lymphohistiocytosis with A665 G Perforin Gene Mutation: A Case Report

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disease. Presentation of the disease such as primarily fever, hepatosplenomegaly, and cytopenia, which are the results of functional degradation in cytotoxic T-lymphocytes and natural killer cells, activation of macrophages and T-lymphocytes, over production of proinflammatory cytokines, and hemophagocytosis. In all, 5 genetic loci have been identified in FHL, and all known affected genes encode critical components of the granule exocytosis pathway, which is essential for the release of cytotoxic granules and proteases that are necessary for targeted cell death. Herein we present an FHL patient with a severe clinical course and a very rare perforin gene mutation. The patient was homozygous for A665G mutation. However, the child died in a short period of time. Prenatal diagnosis was performed in the family and the fetus was found to be heterozygous for the mutation

Trends in hepatitis B and hepatitis C virus seropositivity among blood donors over 15 years screened in the blood bank of a university hospital

Blood transfusion carries well defined risks including hepatitis B and hepatitis C virus transmission. In this study, records of blood donation candidates between the years 1996-2010 were retrospectively reviewed. A total of 220 841 apparently healthy adult donors were screened for hepatitis B surface antigen, anti-HCV with enzyme linked immunosorbent assay (ELISA) method. The overall prevalence of HbsAg and HCV were 1.07% and 0.39%, respectively. HBV seroprevelance decreased through years 1996-2010 but HCV seroprevelance showed a fluctuant course decreasing from 1996 to 2002. In order to decrease transfusion transmitted infections there should be centralized blood collection systems having qualified staff, equipment and non-remunerated voluntary blood donations must be strongly encouraged. (C) 2012 Elsevier Ltd. All rights reserved

Prognostic Factors and Long-Term Outcome in 52 Turkish Children With Hemophagocytic Lymphohistiocytosis

Albayrak, Meryem/0000-0003-2711-5150WOS: 000358289900002PubMed: 25901543Objectives: Hemophagocytic lymphohistiocytosis is a syndrome of pathologic immune activation that shares similar clinical and laboratory phenotypes with severe sepsis. Recent studies led to better recognition of hemophagocytic lymphohistiocytosis by clinicians, but no consensus exists on the criteria for high-risk patients. Design: We retrospectively reviewed the medical records of patients diagnosed with hemophagocytic lymphohistiocytosis to analyze the risk factors associated with poor outcome. Setting: Pediatric intensive care and hematology units of three tertiary hospitals in Turkey. Participants: Fifty-two children with hemophagocytic lymphohistiocytosis. Interventions: None. Measurement and Main Results: There were a total of 52 children meeting the diagnostic criteria of Histiocytic Society. Of them, 28 (54%) had a primary hemophagocytic lymphohistiocytosis. Mutation studies were performed in 18 of 28 patients (65%). Fourteen of them had PRF1, STX11, STXBP2, and UNC13D mutations, and four had Rab27a and LYST mutations. The remaining 24 patients (46%) were defined as having secondary hemophagocytic lymphohistiocytosis. Twenty-one of them had infection-associated hemophagocytic lymphohistiocytosis, and three had lysinuric protein intolerance. The mortality rate was significantly higher in primary hemophagocytic lymphohistiocytosis (64%) than in secondary hemophagocytic lymphohistiocytosis (16%) (p 0.05). Age below 2 years, hyperferritinemia, thrombocytopenia, high disseminated intravascular coagulation score at diagnosis, and no clinical response at 2 weeks of treatment were independent prognostic factors for poor prognosis. Conclusions: Our data suggest that disseminated intravascular coagulation score greater than or equal to 5 can be used in the definition of high-risk patients. Early recognition of poor risk factors has important prognostic and therapeutic implications

Parvovirus B19 seroprevalence in Turkish blood donors

Background/aim: Parvovirus risk in blood transfusion has become a popular research topic since there are limited data on parvovirus seroprevalence in blood donors in Trukey. The aim of this study was to investigate parvovirus seroprevalence in blood donors in Turkey. Materials and methods: Blood samples of 988 blood donors admitted to a university blood bank were obtained for parvovirus B19 IgM and IgG detection. The samples were analyzed using the ELISA method. Results: IgM positivity of 3.92% and IgG positivity of 58.9% was detected in the blood samples. Parvovirus IgM positivity was found to be the highest in the age group of 41-50 years (P = 0.045) and IgG positivity was detected to be the highest in the age group of 31-40 years (P < 0.001). Parvovirus IgG positivity was significantly higher in women (P = 0.041). However, there was no difference regarding parvovirus IgM positivity in terms of sex (P = 0.245). Conclusion: Although this study does not represent the whole country, it is still the largest investigation carried out on the topic in Turkey and the obtained results are generally similar to those of European countries. Therefore, it is thought that the results obtained from this study may be supportive for the first steps regarding plasma fractionation, which will soon begin in Turkey

Hematopoietic Stem Cell Transplantation in a Very High Risk Group of Patients with the Support of Granulocyte Transfusion

WOS: 000293856200005PubMed: 22942564High risk patients with active fungal infection who had undergone hematopoietic stem cell transplantation (HSCT) with the support of granulocyte transfusions (GTX) as an adjunct to antifungal agents are reviewed retrospectively. Patients requiring immediate allogeneic HSCT for their primary hematological disorders (two severe aplastic anemia, one T cell acute lymphoblastic leukemia (ALL) in second complete remission, one acute myeloid leukemia (AML)-in first complete remission, one T-ALL in refractory relapse) but were denied by other transplant programs due to active invasive fungal infections had undergone HSCT with the support of GTX at the stem cell transplantation unit of Gazi University. Five patients who had undergone six transplants were included in the study and received a total of 38 (3-13) granulocyte transfusions during these six transplants. The median granulocyte concentration was 3.4 x 10(11) per apheresis bag. Full clinical and radiological recovery was achieved in three of the five high risk patients with active invasive fungal infection with the combination of antifungal agents and GTX. Even a very high risk patient with aplastic anemia who had undergone two consecutive transplants due to secondary graft failure was also cured of his primary disease despite the presence of multiple pulmonary fungus balls. Three of the five patients with very high risk features due to the underlying hematological disease and the associated active fungal infection were rescued with allogeneic HSCT performed with the support of GTX combined with antifungal agents. Despite the limitations of this report due to its retrospective nature, it suggests that GTX might be an alternative in patients with active fungal infections who otherwise are denied by the transplant programs. However, prospective randomized studies are required to draw a solid conclusion regarding the role of GTX in HSCT recipients in desperate situations such as active fungal infections