Zümrüt Uysal

Desferoxamine and Urinary Zinc Excretion in β-Thalassemia Major

This study has been undertaken to find out whether urinary zinc excretion, which is already increased in patients with thalassemia, is further increased by usual and high doses of desferrioxamine (DF). A total of 11 β-thalassemia major patients were included. DF infusions have been performed with doses, either 50 mg/kg or 150 mg/kg. Nine age and sex matched normal children were taken as the control group. The mean basal-Zn excretion of the patients was significantly higher than the mean Zn excretion observed in controls. No significant difference is observed between the mean Zn excretion obtained on different doses of DF. However, they are both significantly higher than the mean basal-Zn levels of the controls.

Prospective evaluation of acute and chronic renal function in children following matched related donor hematopoietic stem cell transplantation

Ileri T, Ertem M, Ozcakar ZB, Ince Unal E, Biyikli Z, Uysal Z, Ekim M, Yalcinkaya F. Prospective evaluation of acute and chronic renal function in children following matched related donor hematopoietic stem cell transplantation.
Pediatr Transplantation 2010: 14: 138–144.

Recombinant human growth hormone treatment in children with thalassemia major.

Abstract Background: To evaluate the growth hormone reserve and the growth hormone response to recombinant human growth hormone (GH) in prepubertal thalassemic children with growth retardation.

Medical neglect of a child: challenges for pediatricians in developing countries.

OBJECTIVE To conceptualize the underlying causes of the medical neglect of children in a developing country and to provide suggestions for the management of neglect by pediatricians. METHODS A case history of a 4-year-old boy from Turkey with neglect of the required treatment for acute lymphoblastic leukemia is used to examine the causes and management of medical neglect. RESULTS Although epidemiological studies on child neglect are lacking, this case exemplifies how in DEVELOPING countries, reasons for neglect or non-compliance with medical recommendations and the roles and actions taken by the health care and the social service systems may differ from western populations. Common to both western and developing countries, the characteristics of the child, family, and society may be reasons for medical neglect. However, cultural fatalistic beliefs profoundly present in the developing world may also contribute to the medical neglect of a child. Identification of the neglect, a comprehensive, multidisciplinary assessment emphasizing the strengths within the family and the society, and the determination of the pediatric team to act in the best interest of the child may result in resolution of the neglect even in circumstances where resources within systems are not sufficient. CONCLUSIONS In developing countries, increased emphasis on child neglect, its prompt recognition and management within the pediatric profession as well as at a health care and social service system levels are needed to address this prevalent and potentially fatal child health problem.

EXTRAMEDULLARY HEMATOPOIESIS WITH SPINAL CORD COMPRESSION IN A CHILD WITH THALASSEMIA INTERMEDIA

Spinal cord compression due to extramedullary hematopoiesis is an extremely rare complication of thalassemia intermedia. No cases with this complication have been reported in the first decade of life, because masses of heterotropic marrow developed in patients as a result of continuous erythropoiesis. We report the 9-year-old patient suffering from thalassemia intermedia and presenting spinal cord compression. We also review the literature about treatment options, because there is no consensus about the optimal treatment of these patients. Our patient was successfully treated with radiation therapy followed by hydroxyurea. With this combination therapy, he had no recurrence during the 4-year follow-up period. Clinical awareness of this phenomenon with the early treatment is essential for optimizing the successful outcome.

Blood group genotyping in multi-transfused patients

BACKGROUND In chronically transfused patients, the classical hemagglutination assays may be inaccurate in defining the RBC phenotypes of the patients due to previous transfusions. DESIGN DNA samples from 39 multi-transfused patients including thalassemia and sickle cell disease were used for red blood cell genotyping. The Rh-Type and KKD-Type (BAGene, BAG Healthcare) were used to determine the polymorphisms associated with antigen expression for RHD, RHCE and Kell, Kidd, Duffy blood group systems, respectively. Results were compared with previously determined phenotyping results for RhD, RhCcEe and Kell by hemagglutination method. RESULTS Nineteen out of the 37(51%) patients had discrepancies between genotyping and phenotyping results in a total of 25 alleles. In 12 patients, the discrepancies had the potential of alloimmunization. CONCLUSION Blood group genotyping has vital importance in transfusion management of chronically transfused patients especially if the patients were not phenotyped before starting the initial transfusions.

Related donor hematopoietic stem cell transplantation for Fanconi anemia without radiation: A single center experience in Turkey

Abstract:  Eight children with FA underwent allogeneic HSCT without using irradiation for the conditioning regimen. Patients received two different conditioning regimens: first two patients received BU 1.5 mg/kg/day for four days and CY 10 mg/kg/day for four days and the other regimen was: Flu 30 mg/m2/day for five days, CY 10 mg/kg/day for two days, and ATG‐Fresenius 9–10 mg/kg/day for four days. GVHD prophylaxis consisted of CsA + MTX for the first two patients and only CsA for the others. All patients received HLA‐identical stem cells from related donors. Primary engraftment was demonstrated in all patients. No patient developed acute GVHD and one patient had chronic GVHD. Only one patient who received BU based regimen died because of VOD. Overall, seven patients (87.5%) are alive with stable full donor chimerism at a median follow‐up time of 2.5 yr (range: 1.7–8.9 yr). None of the patients developed secondary malignancy. Based on our data, we conclude that Flu‐based, non‐irradiation conditioning regimen was safe with low organ toxicity and stable engraftment in FA patients undergoing HSCT from matched related donors.

Recurrent arterial thrombosis in a child: primary antiphospholipid antibody syndrome.

Antiphospholipid antibody syndrome (APS) is characterized by the association of recurrent arterial or veneous thrombosis or recurrent fetal wasteage 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 livedo reticularis and was diagnosed as APS. Despite the proper anticoagulant treatment she had several cerebral ischemic events a nd died 29 months after thediagnosis. A larger number of pediatric case investigations will be required for better understanding and treating this rare thrombotic disorder.

Thromboembolism in beta-thalassemia major.

Accessible online at: http://BioMedNet.com/karger We read the article by Borgna Pignatti et al. [1] with great interest. They stated that the overall prevalence of thromboembolic episodes in Italian ß-thalassemia patients was 2.3% and 9.6% in thalassemia intermedia patients. The main localization was the central nervous system (CNS) [1]. The Turkish Thalassemia Study Group compiled data from 11 centers in Turkey. Of the 519 homozygous ß-thalassemia patients (77 had thalassemia intermedia). Seventeen (3.27%) had experienced thrombosis. Nine of them had the CNS as the main localization, the rest were reported to be thrombosisrelated to splenectomy [2]. Further, Borgna Pignati et al. discussed the possible mechanisms for the occurrence of thrombosis in ßthalassemia major patients [1] but excluded the genetic susceptibility, which may be another possible mechanism. A mutation in the factor V gene 1691 G→A was identified as the molecular explanation for the phenotype of APC resistance, which is associated with a significant increase in the thrombotic risk. We previously reported a ß-thalassemia major patient (IVS-I nt 110 G-A homozygote) with left intrahepatic thrombosis following splenectomy, which was resolved with heparin and warfarin [3, 4]. Recently we analyzed her DNA for the presence of FV 1691 G-A according to a previously described technique [5]. She had inherited FV Arg 506 Gln in the homozygous state. Underlying FV Arg 506 Gln mutation is a possible factor for neurologic complications in patients with ßthalassemia major. OOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO

Hypercoagulability in Children with Thalassemia Major

Objective: We wished to determine the role of various factors causing hypercoagulability in thalassemia patients. Methods: Forty-six homozygous β-thalassemia patients were investigated. Protein C, protein S, and antithrombin (AT) levels were measured and lupus anticoagulants (LA) were screened. D-Dimer and fibrinopeptide A ( FPA) levels were measured to show the activation of the fibrinolytic system. Ten healthy children served as controls. Results: There was a marked decrease in protein C activity in 44.4% and in protein C antigen in 53.8% of the patients. Although no significant differences was noted between the mean values for protein S in the patient and control groups, protein S activity was <60% in 40% of the patients. AT levels were always normal. D-Dimer and FPA levels were increased, indicating the ongoing coagulation activation and fibrinolysis. Three patients had LA; which reflect the expression of phosphatidylserine on the outer surface of the erythrocyte membrane. Conclusions: In thalassemic patients, there is activation of the coagulation and fibrinolytic system which is believed to be secondary to an underlying mechanism. The presence of LA in some patients, probably due to the expression of PS on the outer surface of the erythrocyte membrane, may be the initiating event. Key Words: Thalassemia-Hypercoagulability-Protein C—Protein S—Antithrombin—Antiphospholipid antibodies.