A5009259995- Hemoglobinopathies and Related Disorders
- Autoimmune and Inflammatory Disorders Research
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Acute Lymphoblastic Leukemia research
- Immunodeficiency and Autoimmune Disorders
- Acute Myeloid Leukemia Research
- Neurogenetic and Muscular Disorders Research
- Platelet Disorders and Treatments
- Immune Cell Function and Interaction
- Chronic Lymphocytic Leukemia Research
- Blood disorders and treatments
- Childhood Cancer Survivors' Quality of Life
- Cancer-related gene regulation
- RNA modifications and cancer
- Hematopoietic Stem Cell Transplantation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Adolescent and Pediatric Healthcare
- Parvovirus B19 Infection Studies
- Blood Coagulation and Thrombosis Mechanisms
- Neonatal Health and Biochemistry
- Peptidase Inhibition and Analysis
- Chronic Myeloid Leukemia Treatments
- Blood properties and coagulation
Hacettepe University
2016-2025
Mersin Üniversitesi
2019
Pediatrics and Genetics
2019
Marmara University
2017
Ege University
2017
Hacettepe University Hospital
2016
Sivas State Hospital
2012
State Hospital
2012
Boston Children's Hospital
2010
Turkish Society of Hematology
2008
Abstract Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond‐Blackfan anemia; hemolytic due to erythrocyte membrane defects, spherocytosis stomatocytosis; enzymatic defects. The study describes the diagnostic workflow for HA, based on development two consecutive versions targeted‐NGS panel, including 34 71 genes,...
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....
Iron deficiency is the most common nutrient in world. Epidemiological data indi- cate that iron more prevalent infants, preschool-children, and adolescents. Etiologies of children include inadequate dietary intake, which cause, as well increased requirements, bleeding, intestinal absorption disorders. can lead to symptoms related anemia, may interfere with neuro- development cause skin, hair, nail, gastrointestinal problems. This review focuses on causes, signs, symptoms, diagnosis...
The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals biallelic HEATR3 exhibiting failure, short stature, facial and acromelic dysmorphic features, intellectual disability. These destabilize a whose yeast homolog known to synchronize the nuclear import of RPs uL5 (RPL11) uL18 (RPL5), which are both critical for producing subunits...
Abstract Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis crucial successful treatment. Although defective cytotoxic T (CTL) function causes pathogenesis, quantification of natural killer (NK)–cell exocytosis triggered by K562 target cells currently represents standard diagnostic procedure primary HLH. We have prospectively evaluated...
We report two children with focal segmental glomerulosclerosis (FSGS) associated mitochondrial cytopathy (MC). Case 1 was diagnosed as MC the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy common 4.9 kb deletion mtDNA when she four years old. She subsequently developed FSGS later. 2 a month-old girl presenting feeding difficulty from birth, vomiting, seizures nystagmoid eye movements, nephrotic proteinuria...
Background Perforin, encoded by PRF1, is a pore-forming protein crucial for lymphocyte cytotoxicity. Biallelic PRF1 nonsense mutations invariably result in early-onset hemophagocytic lymphohistiocytosis (HLH), termed familial HLH type 2 (FHL2). In contrast, biallelic missense may give rise to later-onset disease and more variable manifestations. Procedure We retrospectively searched our database patients from families with siblings carrying where at least one sibling did not develop HLH, an...
Abstract Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between erythroblasts. Diagnosis of CDA remains challenging due to its rarity, clinical heterogeneity, overlapping phenotype with other anemias. In this case series, we present 36 patients suspected I. A molecular diagnosis was successfully...
CDA type I is a rare hereditary anemia, characterized by relative reticulocytopenia, and congenital anomalies. It caused biallelic mutations in one of the two genes: (i) CDAN1, encoding Codanin-1, which implicated nucleosome assembly disassembly; (ii) C15orf41, predicted to encode divalent metal ion-dependent restriction endonuclease with yet unknown function. We described cases I, identifying novel variant, Y94S, DNA binding domain H230P mutation nuclease protein. first analyzed gene...