A major cause of morbidity and mortality in thalassemic patients is infections, assumed to be the result of immunological changes. In this study immune functions of peripheral blood lymphocytes have been studied in 38 beta-thalassemia major, 12 beta-thalassemia trait, and 17 healthy children. Results show decrease in CD4+/CD8+ ratios in the beta-thalassemia major group and no difference according to absolute T-lymphocyte numbers and activated T-cell numbers. These results do not correlate with the tendency to infection. No significant difference was found in humoral immunity. The study of other factors in thalassemia is needed to detect those who are more susceptible to infections.

Amaç: Hemofili A (HA), faktör 8 (F8) genindeki hemizigot mutasyonların neden olduğu X'e bağlı kalıtsal kanama bozukluğudur. Bu çalışmanın amacı, Türkiye'den büyük bir HA kohortunda F8 geninin mutasyon spektrumunu belirlemek ve fenotip-genotip korelasyonu oluşturmaktır. Gereç ve Yöntemler: Mart 2017-Mart 2018 tarihleri arasında Ege Üniversitesi Pediatrik Genetik Moleküler Laboratuvarı'nda moleküler olarak analiz edilen tüm HA hastaları (270 hasta) çalışmaya dahil edildi. "İntron 22 inversiyonu" (Inv22), "intron 1 inversiyonu" (Inv1), "küçük delesyon/duplikasyonlar" ve "nokta mutasyonları" tanımlamak için F8'in moleküler analizleri, uygun bir algoritma kullanılarak gerçekleştirildi. Bulgular: Mutasyon saptama başarı oranı %95,2'ydi. Yüz altı hastada (%39,3) Inv22 pozitif, 4 hastada (%1,5) Inv1, 137 hastada (%50,6) Yüz altı farklı hastalık yapıcı sekans varyantı saptandı. On hastada (%3,7), büyük intragenik delesyonlar olduğu öngörülen bir veya daha

Objective: To increase our understanding of the etiology of idiopathic thrombocytopenic purpura (ITP) some cytokine gene polymorphisms were analyzed for susceptibility to the disease. The aim of this study was to investigate the role of tumor necrosis factor-alpha (TNF-α) -308 G/A and transforming growth factor-beta 1 (TGF-β1) (Turk J Hematol 2011; 28: 170-5)

Immune thrombocytopenic purpura (ITP) is the most common cause of acquired thrombocytopenia children. The aim of this retrospective study is to describe presenting features and clinical characteristics of ITP and evaluate clinical course, treatment modalities, and complications and determine the effects of preceding infection history, age, gender, treatment modality, and admission platelet count on chronicity. Method: Two hundred and eleven patients who were diagnosed ITP and followed-up in Department of Pediatric Hematology, Ankara Children Hematology Oncology Education and Research Hospital between January 2008 and September 2012 were included. Age of the patients, gender, date of admission, date of diagnosis, complaint in the application, previous infection and laboratory tests were recorded. Results: Mean age of the patients on diagnosis was 5.4 AE 4.1 years. The female/male ratio was 1.03. The clinical courses were determined as acute or chronic in 72% and 28% of patients respectively. Mean age at diagnosis was significantly higher in chronic ITP (p < 0.01). Chronic course was significantly higher in female patients (p < 0.05). The most frequent complaint was bruises on the skin (68%). The most common physical examination findings were petechiae, purpura and ecchymosis (89%). Patients with a history of past infection (53.6%) and who had serologically positive infection (15.6%) frequently had acute course (p < 0.01). The most common serologically positive infection was Rubella. The mean platelet count was significantly

IntroductionThe 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 Methods106 pediatric patients were analysed for β-globin gene mutations by using DNA analysis. Patients were classified as having β-thalassemia major or β-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions.ResultsThere were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 – 22.3 years). Eighty-four (79.2%) patients had β-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having β-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (−CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of β-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del –AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41–42 (−CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(−C) (14.3%), and IVS II.745 (C>G)/5′UTR + 22 (G>A) (9.5%).ConclusionOur hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole.

No abstract

No abstract

Antiphospholipid antibody syndrome (APS) is characterized by the association of recurrent arterial or venous thrombosis or recurrent fetal wastage and the presence of circulating antiphospholipid antibodies, detected as anticardiolipin antibodies or lupus anticoagulant. The authors report an 8-year-old girl, who presented with central retinal artery occlusion and live do reticularis and was diagnosed as APS. Despite the proper anticoagulant treatment she had several cerebral ischemic events and died 29 months after the diagnosis. A larger number of pediatric case investigations will be required for better understanding and treating this rare thrombotic disorder.