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Topal Y.,Mula Sitki Kocman University | Topal H.,Mula Sitki Kocman University | Azik F.,Mula Sitki Kocman University | Capanolu M.,Ankara Childrens Hematology and Oncology Research Hospital | Kocabas C.N.,Mula Sitki Kocman University
Hemoglobin | Year: 2015

Thalassemia is an autosomal recessive inherited blood disorder. It is prevalent in Mediterranean countries such as Sardinia, Greece, Cyprus, Turkey, Lebanon and also Southeast Asia. Our aim was to investigate the carrier prevalence of thalassemia and other hemoglobinopathies in adolescents who live in Muʇla Province, Turkey. We analyzed retrospectively the surveys conducted at primary schools between 1997 and 2013. Complete blood count (CBC) and high performance liquid chromatography (HPLC) were used to screen for thalassemia and hemoglobinopathies. Patients were diagnosed as having thalassemia trait if the mean corpuscular volume (MCV) was ≤80.0 fL, mean corpuscular hemoglobin (Hb) was ≤27.0 pg and Hb A2 levels were ≥3.5%. A total of 164 814 students were analyzed. The median age of the students was 13.5 years (minimum 13.0, maximum 14.0). The total number of students with abnormal HPLC results was 5861 (3.8%). There was a significant decrease in the newborn of new thalassemia patients found with screening programs for hemoglobinopathies in Muʇla Province from 1997 to 2013. The number of students with abnormal HPLC results for thalassemia, sickle cell disease and other Hb traits were 3.2, 0.15 and 0.4%, respectively. It is important to recognize that including Hb, MCV, red blood cell (RBC) count and HPLC tests for carrier screening are necessary to find hemoglobinopathies. Our study supported that the number of new patients significantly decreased using these screening programs from 1997 to 2013. © 2015 Informa Healthcare USA, Inc.


Van Dommelen P.,TNO | Boer S.,TNO | Unal S.,Ankara Childrens Hematology and Oncology Research Hospital | Van Wouwe J.P.,TNO
Birth | Year: 2014

Background: Most breast-fed newborns get the milk they need. However, very rarely milk intake is insufficient mostly as a result of poor breastfeeding techniques. Dramatic weight loss and hypernatremic dehydration may occur. Our aim was to construct charts for weight loss. Methods: A case-control study was performed. Charts with standard deviation score (SDS) lines for weight loss in the first month were constructed for 2,359 healthy breast-fed term newborns and 271 cases with breastfeeding-associated hypernatremic dehydration with serum sodium level > 149 mEq/L. Day 0 was defined as the day of birth. Results: Many cases with (or who will develop) hypernatremic dehydration (84%; +1 SDS line) fell below the -1 SDS line at day 3, the -2 SDS line at day 4, and the -2.5 SDS line at day 5 in the chart of the healthy breast-fed newborns. Weight loss of cases with permanent residual symptoms was far below the -2.5 SDS. Conclusions: Already at an early age, weight loss differs between healthy breast-fed newborns and those with hypernatremic dehydration. Charts for weight loss are, therefore, useful tools to detect early, or prevent newborns from developing, breastfeeding-associated hypernatremic dehydration, and also to prevent unnecessary formula supplementing. © 2014 Wiley Periodicals, Inc.


PubMed | Ankara Childrens Hematology and Oncology Research Hospital and Applied Scientific Research
Type: Journal Article | Journal: PloS one | Year: 2016

Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to provide evidence-based support of this universally promoted weighing policy and to establish the most crucial days of weighing.Weight measurements of 2,359 healthy newborns and of 271 newborns with clinical hypernatremic dehydration were used within the first seven days of life to simulate various weighting policies to prevent hypernatremic dehydration; its sensitivity, specificity and positive predictive value (PPV) of these policies were calculated. Various referral criteria were also evaluated.A policy of daily weighing with a cut-off value of -2.5 Standard Deviation Score (SDS) on the growth chart for weight loss, had a 97.6% sensitivity, 97.6% specificity and a PPV of 2.80%. Weighing at birth and only at days two, four and seven with the same -2.5 SDS cut-off, resulted in 97.3% sensitivity, 98.5% specificity and a PPV of 4.43%.A weighing policy with measurements restricted to birth and day two, four and seven applying the -2.5 SDS cut-off seems an optimal policy to detect hypernatremic dehydration. Therefore we recommend to preferably weigh newborns at least on day two (i.e. ~48h), four and seven, and refer them to clinical pediatric care if their weight loss increases below -2.5 SDS. We also suggest lactation support for the mother, full clinical assessment of the infant and weighing again the following day in all newborns reaching a weight loss below -2.0 SDS.


Fettah A.,Ankara Childrens Hematology and Oncology Research Hospital | Bayram C.,Ankara Childrens Hematology and Oncology Research Hospital | Yarali N.,Ankara Childrens Hematology and Oncology Research Hospital | Isik P.,Ankara Childrens Hematology and Oncology Research Hospital | And 3 more authors.
Mediterranean Journal of Hematology and Infectious Diseases | Year: 2013

Introduction: The 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 Methods: 106 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. Results: There 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%). Conclusion: Our 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.


Aksu T.,Ankara Childrens Hematology and Oncology Research Hospital | Yarali N.,Ankara Childrens Hematology and Oncology Research Hospital | Bayram C.,Ankara Childrens Hematology and Oncology Research Hospital | Fettah A.,Ankara Childrens Hematology and Oncology Research Hospital | And 2 more authors.
Hemoglobin | Year: 2014

Hb Adana (HBA1: c.179G>A) is a very rare, unstable form of α-globin variant that results from deficient synthesis of functional α chains. We present a 2-month-old boy with hypochromic microcytic anemia, and remarkable anisocytosis, target cells and basophilic stippling on his peripheral blood smear. α-Globin gene analysis of the patient determined homozygosity for HBA1: c.179G>A, a mutation known as Hb Adana. On his follow-up visit, hemoglobin (Hb) levels were stable at 9.0-9.5g/dL and mean corpuscular volume (MCV) was 62.2-62.5fL without the need for a blood transfusion. Clinical and hematological findings of our case were comparable to Hb H (β4) or β-thalassemia intermedia (β-TI)-like phenotypes, despite the fact that he carried an α1 gene mutation. Heterozygosity for the HBA1: c.179G>A mutation may also lead to microcytosis only as seen in his parents. According to our current knowledge, this is the first described case with homozygosity for the Hb Adana mutation, carried on the α1 gene. The relatively mild presentation of the case highlights the milder phenotypic consequences of nondeletional α mutations in the α1 vs. the α2 gene. © 2014 Informa Healthcare USA, Inc. All rights reserved.


PubMed | Ankara Childrens Hematology and Oncology Research Hospital
Type: Journal Article | Journal: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | Year: 2015

In this study, we aimed to determine the effect(s) of G-CSF priming on graft and transplantation parameters and compare these findings with those obtained without priming. A total of 64 pediatric patients transplanted from HLA-matched family donors were enrolled in the study. Twenty-nine patients received G-CSF primed marrow (G-BM group) and 35 patients received steady state bone marrow (S-BM group). Number of total nucleated cells (TNC) and CD34(+) cells, CFU-GM colony number, neutrophil and platelet engraftment times, total length of stay in hospital, overall and disease free survival, and occasions of acute and chronic GvHD has been compared between these two groups. Granulocyte colony stimulating factor primed bone marrow (G-BM) yielded higher numbers of CD34(+) cells, TNCs, and CFU-GM colony numbers compared to those obtained in S-BM. The neutrophil engraftment time, platelet engraftment time, length of stay in hospital, overall survival and disease free survival were not different between G-BM and S-BM groups. Also the cumulative incidence of grades II-IV acute and chronic GvHD were similar. It was observed that the use of G-CSF did not increase the risk of acute or chronic GvHD. We concluded that use of G-CSF for stem cell mobilization is an effective and safe method in children.


Can G.,Istanbul University | Bilgin L.,Ankara Childrens Hematology and Oncology Research Hospital | Tatli B.,Istanbul University | Saydam R.,Istanbul University | And 2 more authors.
Turkish Journal of Pediatrics | Year: 2012

Morbidity in early adulthood among low-risk very low birth weight children in Turkey: a preliminary study. Turk J Pediatr 2012; 54: 458-464. The objective of this study was to assess low-risk very low birth weight (VLBW) children, before the era of modern neonatal intensive care in Turkey, during adolescence. Forty-one VLBW adolescents were compared with 40 adolescents who had normal birth weight. The physical and neuromotor development, educational achievement and psychosocial status were assessed at a mean age of 17±1.6 years. VLBW adolescents were shorter than normal birth weight adolescents (p=0.01). A major neurological abnormality (cerebral palsy) was seen in 12% and a minor neurological abnormality (tremor, coordination, behavioral and speech disorders) in 17%. VLBW adolescents had higher rates of visual problems (56% vs 5%). School failure was present in 27%. There were no differences in behavioral problems or quality of life between the two groups, but VLBW adolescents did have a lower self-esteem score. Neurodevelopment and growth sequelae were a significant problem in VLBW adolescents. As early intervention might help to prevent or ameliorate potential problems, long-term follow-up is essential.


PubMed | Ankara Childrens Hematology and Oncology Research Hospital
Type: Journal Article | Journal: The Turkish journal of pediatrics | Year: 2015

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), nonketotic hyperglycinemia (4) and tyrosinemia (2) were the most commonly diagnosed IEMs. The follow-up period was 2.5-43 months. Among the 33 neonates followed, 19 had normal development, 9 had developmental delays and 5 had cerebral palsy according to the Guide for Monitoring Child Development. Postnatal age on admission, Apgar score at 5 minutes, being transferred, peritoneal dialysis, cranial ultrasonographic findings, consanguinity and sibling history had significant effects on outcome. Early diagnosis through expanded neonatal screening in countries with high rates of consanguinity, enabling the initiation of early treatment, is essential for achieving low mortality rates and good prognoses.


PubMed | Ankara Childrens Hematology and Oncology Research Hospital
Type: Journal Article | Journal: Mediterranean journal of hematology and infectious diseases | Year: 2013

The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate -globin chain mutations and the phenotypic severity of -thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey.106 pediatric patients were analysed for -globin gene mutations by using DNA analysis. Patients were classified as having -thalassemia major or -thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions.There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.25 years (1.6 - 22.3 years). Eighty-four (79.2%) patients had -thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having -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 -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)/5UTR + 22 (G>A) (9.5%).Our 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.


PubMed | Ankara Childrens Hematology and Oncology Research Hospital
Type: Case Reports | Journal: Hemoglobin | Year: 2014

Hb Adana (HBA1: c.179G > A) is a very rare, unstable form of -globin variant that results from deficient synthesis of functional chains. We present a 2-month-old boy with hypochromic microcytic anemia, and remarkable anisocytosis, target cells and basophilic stippling on his peripheral blood smear. -Globin gene analysis of the patient determined homozygosity for HBA1: c.179G > A, a mutation known as Hb Adana. On his follow-up visit, hemoglobin (Hb) levels were stable at 9.0-9.5 g/dL and mean corpuscular volume (MCV) was 62.2-62.5 fL without the need for a blood transfusion. Clinical and hematological findings of our case were comparable to Hb H (4) or -thalassemia intermedia (-TI)-like phenotypes, despite the fact that he carried an 1 gene mutation. Heterozygosity for the HBA1: c.179G > A mutation may also lead to microcytosis only as seen in his parents. According to our current knowledge, this is the first described case with homozygosity for the Hb Adana mutation, carried on the 1 gene. The relatively mild presentation of the case highlights the milder phenotypic consequences of nondeletional mutations in the 1 vs. the 2 gene.

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