A5063074658- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Acute Lymphoblastic Leukemia research
- Acute Myeloid Leukemia Research
- Erythrocyte Function and Pathophysiology
- Autoimmune and Inflammatory Disorders Research
- Blood groups and transfusion
- Blood disorders and treatments
- Platelet Disorders and Treatments
- Neonatal Health and Biochemistry
- Childhood Cancer Survivors' Quality of Life
- Immunodeficiency and Autoimmune Disorders
- Blood Coagulation and Thrombosis Mechanisms
- DNA Repair Mechanisms
- Hemophilia Treatment and Research
- Blood properties and coagulation
- Folate and B Vitamins Research
- Hematopoietic Stem Cell Transplantation
- Metabolism and Genetic Disorders
- Immune Cell Function and Interaction
- Neurogenetic and Muscular Disorders Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Neutropenia and Cancer Infections
- Venous Thromboembolism Diagnosis and Management
- Adolescent and Pediatric Healthcare
Hacettepe University
2016-2025
Pediatrics and Genetics
2019
Hacettepe University Hospital
2003-2016
Fundación Juan March
2016
Boston Children's Hospital
1994-2014
Gaziantep Children's Hospital
1997-2012
Marymount University
2010
Turkish Society of Hematology
2008-2010
Children's Hospital
1998
Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and enzyme activities patients DADA2 compared non-DADA2 patients. Methods. This a descriptive study 24 who were admitted Adult Pediatric Rheumatology, Haematology, Immunology Departments Hacettepe University. All exons screened by Sanger sequencing. Serum activity was measured modified spectrophotometric method....
Abstract Red cell distribution width (RDW) was studied in adults carrying δ‐β thalassemia traits (δβ‐TT) who were 20–40 years of age ( n = 29), β (β‐TT) with an range 18–60 49), iron deficiency anemia (IDA) individuals aged 1–18 27), and controls 20). Although red blood count, MCV, MCH values showed no statistically significant differences between δβ‐TT β‐TT, the mean RDW value significantly higher (20.14 ± 1.21) compared to β‐TT (14.88 ±1.77) P < 0.001). No difference observed means IDA...
Hemophagocytic lymphohistiocytosis (HLH) may develop secondary to infections, malignancies, immune deficiency syndromes, and rheumatologic metabolic disorders. Associations between HLH inborn errors of metabolism, including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, galactosialidosis, have previously been reported in the literature. In this report authors present 3 children with disorders propionate metabolism—1...
The aim of this study was to analyze the hematological features in children with systemic lupus erythematosus (SLE) and review our current treatment protocols.We evaluated findings 43 SLE diagnosed followed at Pediatric Rheumatology Division Hacettepe University, Turkey. Thirty-seven patients abnormalities were analyzed detail.Median age presentation 13 years. Hematological involvement seen 86% patients. most common finding anemia (n = 30). Anemia either a Coombs (+) hemolytic one, or due...
Significance Many patients with breast and ovarian cancer carry inherited cancer-predisposing mutations in BRCA1 . However, virtually no have two because the DNA repair function of is essential for embryonic development. We discovered that nonsense from a specific region may survive as result naturally occurring alternative splicing yields short but partially functional protein. These are extremely rare, characterized by severe chromosomal fragility, congenital anomalies, predisposition to...
Introduction Aim of the study was to evaluate effect methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. Materials and Methods A total 617 pregnancies women who were investigated for MTHFR C677T A1298C prior included in study. Cases classified into "homozygous polymorphisms" (Group I), "heterozygous II), patients without functioned as controls III). Patients with assigned a specific protocol at least 3 months before becoming pregnant. Administration low molecular...
Interleukin-12 receptor beta-1 (IL-12Rβ1) defect is generally associated with selective susceptibility to weakly pathogenic mycobacteria and Salmonella species. Patients rarely experience infections caused by other organisms. We report a 5-year-old patient IL-12Rβ1 deficiency who developed recurrent visceral leishmaniasis 6 months apart. The responded lyposomal amphotericin B treatment reasonably well.
Abstract DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of double‐strand breaks non‐homologous end‐joining. Herein, we report two siblings with LIG4 novel mutation. One the siblings, who had normocellular marrow, autologous reconstitution after initial non‐myeloablative...
Objective: We aimed to evaluate the feasibility of quantification liver, pancreas, spleen, vertebral bone marrow, and renal cortex R2* magnetic resonance imaging-proton density fat fraction (MRI-PDFF) correlations among them in patients with transfusion-related iron overload.Materials Methods: A total 9 (5 boys, 4 girls) who were referred our clinic suspicion hepatic overload included this study.All underwent T1-independent volumetric multi-echo gradient-echo imaging T2* correction spectral...