Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study.

Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group.

Successful management of delayed-onset adenosine deaminase deficiency with novel mutation.

A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel gene mutations causing ADA deficiency were detected.

Successful Treatment of a Child with Hemoglobin Hammersmith with Hematopoietic Stem Cell Transplantation.

Hemoglobin (Hb) Hammersmith, formed by serine substitution for phenylalanine at residue 42 in the beta-globin chain, is a very rare variant of unstable hemoglobin with low oxygen affinity. For patients with hemoglobinopathies, it is well-established that hematopoietic stem cell transplantation provides a complete cure, but the literature on its role for those with Hb Hammersmith is limited. A seven-month-old girl who was examined for anemia and splenomegaly was followed up for congenital hemolytic anemia.

Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study.

Background: In patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients.

Procedure: Pediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Türkiye.

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

Background: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8.

Objective: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients.

Methods: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled.

The effectiveness of tools for monitoring hemophilic arthropathy.

Introduction: Hemophilic arthropathy is the most important cause of morbidity in patients with hemophilia. The earliest alterations that occur during the development of hemophilic arthropathy can be shown using magnetic resonance imaging (MRI). In addition, various tools have been developed to monitor joint health.

The clinical findings and prophylactic treatment in children with factor X deficiency.

Factor X (FX) is the component of both extrinsic and intrinsic coagulation cascade and is the first enzyme of the common pathway which results in thrombus. Congenital FX deficiency (FXD) is an extremely rare coagulation defect. In this study, we aimed to investigate the clinical and laboratory data of the patients diagnosed with FXD.