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BACKGROUND: Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. METHOD: Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. RESULTS: The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (± mean standard error) follow-up period was 129.7 ± 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. CONCLUSION: In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Neutropenia/genética , Adolescente , Adulto , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Feminino , Homozigoto , Humanos , Lactente , Masculino , Mutação , Sistema de Registros , Turquia , Adulto JovemRESUMO
OBJECTIVE: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. MATERIALS AND METHODS: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with ß-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). RESULTS: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all ß-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999. CONCLUSION: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey.
Assuntos
Talassemia/epidemiologia , Distribuição por Idade , Alelos , Demografia , Feminino , Humanos , Masculino , Programas de Rastreamento , Mutação , Fenótipo , Vigilância da População , Sistema de Registros , Talassemia/diagnóstico , Talassemia/prevenção & controle , Talassemia/terapia , Turquia/epidemiologiaRESUMO
OBJECTIVE: This study aimed to define the status of juvenile myelomonocytic leukemia (JMML) patients in Turkey in terms of time of diagnosis, clinical characteristics, mutational studies, clinical course, and treatment strategies. MATERIALS AND METHODS: Data including clinical and laboratory characteristics and treatment strategies of JMML patients were collected retrospectively from pediatric hematology-oncology centers in Turkey. RESULTS: Sixty-five children with JMML diagnosed between 2002 and 2016 in 18 institutions throughout Turkey were enrolled in the study. The median age at diagnosis was 17 months (min-max: 2-117 months). Splenomegaly was present in 92% of patients at the time of diagnosis. The median white blood cell, monocyte, and platelet counts were 32.9x109/L, 5.4x109/L, and 58.3x109/L, respectively. Monosomy 7 was present in 18% of patients. JMML mutational analysis was performed in 32 of 65 patients (49%) and PTPN11 was the most common mutation. Hematopoietic stem cell transplantation (HSCT) could only be performed in 28 patients (44%), the majority being after the year 2012. The most frequent reason for not performing HSCT was the inability to find a suitable donor. The median time from diagnosis to HSCT was 9 months (min-max: 2-63 months). The 5-year cumulative survival rate was 33% and median estimated survival time was 30±17.4 months (95% CI: 0-64.1) for all patients. Survival time was significantly better in the HSCT group (log-rank p=0.019). Older age at diagnosis (>2 years), platelet count of less than 40x109/L, and PTPN11 mutation were the factors significantly associated with shorter survival time. CONCLUSION: Although there has recently been improvement in terms of definitive diagnosis and HSCT in JMML patients, the overall results are not satisfactory and it is necessary to put more effort into this issue in Turkey.
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Leucemia Mielomonocítica Juvenil/epidemiologia , Biópsia , Pré-Escolar , Terapia Combinada , Feminino , Testes Genéticos , Humanos , Lactente , Leucemia Mielomonocítica Juvenil/diagnóstico , Leucemia Mielomonocítica Juvenil/etiologia , Leucemia Mielomonocítica Juvenil/terapia , Masculino , Vigilância em Saúde Pública , Estudos Retrospectivos , Análise de Sobrevida , Avaliação de Sintomas , Turquia/epidemiologiaRESUMO
The increased awareness about the severity of complications in thalassemia intermedia patients led authorities to develop strategies for better management and follow-up of these patients. In this study, we aimed to define the clinical and laboratory characteristics in previously followed-up ß-thalassemia intermedia patients and wanted to gain an insight about the follow-up of this patient population in a developing country to provide them better care in the future. The mean age at diagnosis was 4 years, and the mean hemoglobin was 7.13 g/dL. The mean age at the beginning of regular transfusion was 4.8 years. An overall 74% of patients were on a regular transfusion program. The mean ferritin values at diagnosis and the last follow-up were 487 and 1225 ng/mL, respectively. The most common mutations detected in patients were IVS-I-110, IVS-I-6, IVS-II-1, and FCS 8/9 in order of frequency. Complications were seen in 48% of patients. The most common complications were osteopenia/osteoporosis (34%), growth retardation (24%), hypogonadism (18%), and cardiomyopathy (13%). In conclusion, the relatively higher complication rate in our patients who were previously treated highlights once again the need for an increased effort for optimal management and follow-up of this specific group of patients.
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Talassemia beta/complicações , Talassemia beta/terapia , Adolescente , Transfusão de Sangue , Doenças Ósseas Metabólicas/etiologia , Cardiomiopatias/etiologia , Criança , Pré-Escolar , Gerenciamento Clínico , Ferritinas/sangue , Seguimentos , Crescimento , Humanos , Hipogonadismo/etiologia , MutaçãoAssuntos
Eritema Infeccioso/virologia , Imunossupressores/efeitos adversos , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Infecções Oportunistas/virologia , Aplasia Pura de Série Vermelha/virologia , Adolescente , Transfusão de Sangue , Resistência a Medicamentos , Eritema Infeccioso/diagnóstico , Eritema Infeccioso/tratamento farmacológico , Eritema Infeccioso/imunologia , Eritropoetina/uso terapêutico , Hematínicos/uso terapêutico , Humanos , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas/uso terapêutico , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/etiologia , Masculino , Nefrite Hereditária/complicações , Infecções Oportunistas/diagnóstico , Infecções Oportunistas/tratamento farmacológico , Infecções Oportunistas/imunologia , Aplasia Pura de Série Vermelha/diagnóstico , Aplasia Pura de Série Vermelha/tratamento farmacológico , Aplasia Pura de Série Vermelha/imunologia , Resultado do TratamentoRESUMO
Invasive fungal infections are most commonly seen in immunocompromised patients and usually affect the respiratory system. Gastrointestinal system involvement of mucormycosis and invasive aspergillosis is rarely reported in childhood. Here we describe a 5 year old boy with acute lymphoblastic leukaemia who developed invasive fungal infection particularly affecting the lower gastrointestinal system to emphasise the difficulties in diagnosis and management of invasive fungal infections in immunocompromised patients.
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Despite the use of primary prophylactic Factor VIII replacement in severe hemophilia A patients, bleeding into joints cannot be prevented completely and early diagnosis and treatment of the joint bleedings are important for prevention of permanent joint damage. Recent studies have shown that neoangiogenesis plays important role in development of synovitis after recurrent joint bleedings. This study aimed to investigate the relationship between joint findings and levels of serum angiogenic and inflammatory factors in severe hemophilia A patients.The patient groups consisted of 10 severe hemophilia A patients with acute joint bleeding and 25 severe hemophilia A patients without acute joint bleeding. They were all inhibitor negative. The control group consisted of 22 healthy male children. Complete blood cell count analysis, C-reactive protein (CRP), serum ferritin, lactic acid, and ELISA-based detection of vascular endothelial growth factor (VEGF), intercellular adhesion molecule-1, thrombomodulin, macrophage migration inhibitory factor (MIF), and endostatin were performed from peripheral blood of patient and the control groups. CRP and MIF levels were detected significantly higher in hemophilia patients with acute joint bleeding than patients without acute joint bleeding. There was a positive correlation between serum thrombomodulin, VEGF, and MIF levels. In this study, we demonstrated that serum CRP and MIF levels increases in acute bleeding period regardless of the presence of previous joint damage in children with severe hemophilia. CRP elevation may be a useful and rapid marker for acute bleeding in these patients.
Assuntos
Hemartrose/sangue , Hemofilia A/sangue , Hemofilia A/patologia , Adolescente , Indutores da Angiogênese/sangue , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Molécula 1 de Adesão Intercelular/sangue , Oxirredutases Intramoleculares/sangue , Fatores Inibidores da Migração de Macrófagos/sangue , Masculino , Trombomodulina/sangue , Fator A de Crescimento do Endotélio Vascular/sangueRESUMO
UNLABELLED: Central nervous system (CNS) involvement of Epstein-Barr virus (EBV)-associated lymphoproliferative disease is a rare and serious complication in children with leukemia. Although rituximab therapy seems to be promising in these cases, persistent hypogammaglobulinemia may appear after treatment due to complete depletion of normal B lymphocytes in the peripheral blood. Here we report isolated CNS involvement of EBV-associated lymphoproliferative disorder in a 4-year-old boy with acute leukemia. The patient was treated with rituximab and interferon alpha; however, persistent hypogammaglobulinemia developed as a complication. Given the rarity of the complication in children receiving these agents, our experience with such a case may be helpful to others. CONFLICT OF INTEREST: None declared.
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Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of RD and the clinical course is rapidly fatal due to overwhelming infections. The authors report a female newborn at 32 weeks of gestation presenting with severe leukopenia at birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. She had no response to granulocyte colony stimulating factor (rGCSF) treatment and died with sepsis at age of 2 months.
Assuntos
Leucopenia , Imunodeficiência Combinada Severa , Transplante de Medula Óssea , Evolução Fatal , Feminino , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Humanos , Lactente , Leucopenia/diagnóstico , Leucopenia/terapia , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapiaRESUMO
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder characterized by systemic and central nervous system folate deficiency. Turkish siblings are reported with the clinical syndrome of HFM, homozygous for deletion of 2 bases (c.204_205 delCC) within the first exon of the proton-coupled folate transporter (PCFT) gene, causing a frameshift. Low blood and cerebrospinal fluid folate levels were detected at ages 3.5 and 1 month. Treatment with parenteral 5-formyltetrahydrofolate resulted in normal development now at ages 3 and 1 year. Extending current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum will provide opportunities to define possible genotype-phenotype correlations and clarify the basis for the phenotypic variability that is characteristic of this disorder.
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Ácido Fólico/metabolismo , Síndromes de Malabsorção/genética , Transportador de Folato Acoplado a Próton/genética , Feminino , Humanos , Lactente , Síndromes de Malabsorção/metabolismo , Masculino , Mutação , Irmãos , TurquiaRESUMO
Hyperleukocytosis, defined as a peripheral leukocyte count ≥ 100x109/L, is seen in 5-20% of newly diagnosed cases of childhood leukemia and is a poor prognostic factor. In this study, we aimed to examine the presenting clinical and laboratory features, complications, and treatment outcome of 47 children with acute lymphoblastic leukemia (ALL) and hyperleukocytosis who were diagnosed and treated in four medical centers of Izmir between January 1990 and January 2001. The median age was 5.0 years (range: 0.1-16.3 years). Median white blood cell count was 495x109/L (range: 107x109/L- 794x109/L). Forty-two of 47 patients (90%) had hepatosplenomegaly, 5 (11%) had respiratory distress, 3 (6%) had neurologic symptoms, 3 (6%) had diffuse cervical lymphadenopathy, and 3 (6%) had acute renal failure at admission. Ten of 47 patients (21%) had central nervous system involvement, and 17 (36%) had mediastinal mass. Ten patients (21%) had coagulopathy and 15 patients (32%) had metabolic complications (8 patients had hyperuricemia, 4 had hyperphosphatemia, 2 had hyperuricemia, hyperphosphatemia and hypercalcemia, and 1 had hypocalcemia) before the initiation of therapy. Forty of 47 patients (85%) with hyperleukocytosis were effectively managed with intravenous hydration, alkalinization, and allopurinol therapy. Early death during remission induction therapy occurred in 5 patients (11%) with respiratory distress and sepsis. Kaplan-Meier estimates of event free survival and overall survival were 37.0% and 40.5%, respectively.
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The authors describe an 11-year-old boy with hemophilia A and high titer inhibitor who developed a life-threatening mediastinal-retroperitoneal hemorrhage. Chest CT showed a large hematoma beginning in the retrotracheal area, filling the mediastinum, compressing the carina, and extending retroperitoneally up to the kidneys. As the surgical approach has a high mortality rate, the authors chose a more conservative approach initially and obtained excellent bleeding control with recombinant activated factor VII without the need for surgical intervention. As reported in other patients, the authors also showed a decrease in the factor III inhibitor while this patient was successfully treated with bypassing agents.
Assuntos
Fator VII/uso terapêutico , Hemoperitônio/tratamento farmacológico , Hemofilia A/complicações , Adulto , Hematoma/diagnóstico por imagem , Hemoperitônio/diagnóstico por imagem , Hemoperitônio/etiologia , Humanos , Masculino , Radiografia Torácica , Proteínas Recombinantes/uso terapêutico , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
PURPOSE: To investigate whether transforming growth factor-beta 1 (TGF-beta 1) gene polymorphisms have a role in the development, clinical progress, and treatment response in children with idiopathic thrombocytopenic purpura (ITP). PATIENTS AND METHODS: Thirty-five children with acute ITP, 40 children with chronic ITP, and 97 healthy children were enrolled. After genomic DNA was extracted, TGF-beta 1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms were studied using a coupled polymerase chain reaction-restriction enzyme digestion method. RESULTS: The genotype and allele frequencies of TGF-beta 1 polymorphisms between acute ITP, chronic ITP, and control group did not differ significantly. No significant association was found between TGF-beta 1 polymorphisms and therapy response. CONCLUSIONS: These results demonstrate that the frequency of TGF-beta1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms and alleles do not play a role as a genetic risk factor in the development and clinical progress of ITP. Different results may be obtained with further studies involving larger patient populations and other TGF-beta 1 gene polymorphisms.
Assuntos
Polimorfismo Genético , Púrpura Trombocitopênica Idiopática/genética , Fator de Crescimento Transformador beta/genética , Adolescente , Criança , Pré-Escolar , Códon , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Púrpura Trombocitopênica Idiopática/etiologia , Fatores de Risco , Fator de Crescimento Transformador beta1RESUMO
OBJECTIVE: Although the platelet destruction shows a primary role in the thrombocytopenia of idiopathic thrombocytopenic purpura (ITP), it has been demonstrated that impaired platelet production may also contribute to the severity of thrombocytopenia in ITP. The present study examined megakaryocyte apoptosis in bone marrow aspirates of children with acute and chronic ITP and investigated the role of megakaryocyte apoptosis in ITP pathophysiology. METHODS: Thirteen children diagnosed with acute ITP and eight children diagnosed with chronic ITP comprised the study group. Ten children, who were hospitalized for scoliosis operation but healthy otherwise, comprised the control group. In all children, megakaryocytes were isolated from the same amount of bone marrow aspirate samples using MACS CD61 MicroBeads (Miltenyl Biotec, Auburn, CA, USA). Megakaryocyte apoptosis was studied with transferase-mediated d-UTP-bitin nick end-labeling method. RESULTS: Isolated megakaryocyte counts did not differ significantly between acute ITP, chronic ITP and control groups. The percentage of apoptotic megakaryocytes did not differ significantly between acute ITP group and control group and between chronic ITP group and control group. The percentage of apoptotic megakaryocytes in patients with chronic ITP was significantly lower than the patients with acute ITP. There was no correlation between the percentage of apoptotic megakaryocytes and platelet counts of the cases. CONCLUSIONS: Increased megakaryocytic apoptosis does not play a role in the pathogenesis of dysmegakaryopoiesis and impaired platelet production in children with ITP. Decreased megakaryocyte apoptosis in cases with chronic ITP may be due to suppression of megakaryocyte maturation, as the terminal phase of the megakaryocyte lifespan is characterized by the onset of apoptosis.
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Apoptose , Megacariócitos/patologia , Púrpura Trombocitopênica Idiopática/patologia , Doença Aguda , Adolescente , Medula Óssea , Estudos de Casos e Controles , Contagem de Células , Criança , Pré-Escolar , Doença Crônica , Feminino , Citometria de Fluxo , Humanos , Lactente , Masculino , Púrpura Trombocitopênica Idiopática/etiologiaRESUMO
Increased susceptibility to infection is reported in patients with beta-thalassemia major due to toxic effect of iron on neutrophil functions and reticuloendothelial system dysfunction. This study investigated the association between the neutrophil apoptosis and frequency of infection episodes, desferrioxamine treatment, and serum ferritin levels in patients with beta-thalassemia major. A total of 35 children diagnosed with beta-thalassemia major were enrolled. Group 1 consisted patients who were receiving desferrioxamine (DFO) and group 2 consisted of patients who did not start to receive DFO. A total of 15 healthy children were enrolled to serve as a control group. Frequency of infection episodes within a year was noted from hospital records. In all patients, the same method based on flow cytometry (annexin V labeled with FITC) was used to assess neutrophil apoptosis. Neutrophil count and percentage of apoptotic neutrophils did not differ significantly between the groups. When frequency of infection episodes among groups was evaluated, frequency of infection episodes of the patients who were receiving DFO was significantly higher than in the other groups. When correlation between neutrophil apoptosis and frequency of infection episodes, serum ferritin levels, and neutrophil count of the patients was analyzed according to groups, no significant correlation was found. The results indicate that high serum ferritin level and DFO use in patients with beta-thalassemia major do not enhance neutrophil apotosis in vivo and enhanced neutrophil apoptosis cannot be a possible cause for increased susceptibility to infections in these patients.
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Apoptose/efeitos dos fármacos , Neutrófilos/efeitos dos fármacos , Talassemia beta/patologia , Adolescente , Criança , Pré-Escolar , Desferroxamina/administração & dosagem , Desferroxamina/uso terapêutico , Relação Dose-Resposta a Droga , Feminino , Ferritinas/sangue , Humanos , Lactente , Infecções/sangue , Ferro/sangue , Quelantes de Ferro/administração & dosagem , Quelantes de Ferro/uso terapêutico , Masculino , Neutrófilos/patologia , Fatores de Tempo , Turquia , Talassemia beta/sangue , Talassemia beta/tratamento farmacológicoRESUMO
In this case report, we present a pediatric case of lymphomatoid granulomatosis (LG) with onset just after the completion of chemotherapy for childhood acute myeloid leukemia (AML). After the completion of maintenance therapy, the patient was admitted to our clinic with a complaint of cough. Radiologic examinations revealed nodular lesions in lungs, liver, and kidney. His bone marrow was in remission. The histopathologic examination of the open lung biopsy was consistent with LG. He received only one cycle of cyclophosphamide and high-dose methyl prednisolone treatment and continued to receive interferon (IFN) alpha-2b therapy for 18 months. This treatment regimen resulted in an excellent response. In conclusion, LG may occur after the treatment of pediatric AML as a rare complication and IFN alpha-2b may be an effective treatment choice in these patients.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Renais/diagnóstico , Leucemia Mieloide/tratamento farmacológico , Neoplasias Hepáticas/diagnóstico , Neoplasias Pulmonares/diagnóstico , Granulomatose Linfomatoide/diagnóstico , Doença Aguda , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Criança , Ciclofosfamida/administração & dosagem , Humanos , Interferon alfa-2 , Interferon-alfa/administração & dosagem , Neoplasias Renais/tratamento farmacológico , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Pulmonares/tratamento farmacológico , Granulomatose Linfomatoide/tratamento farmacológico , Masculino , Metilprednisolona/administração & dosagem , Proteínas Recombinantes , Resultado do TratamentoRESUMO
Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. Patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages. A positive result of the Direct Coomb's test, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura are the most common features of autoimmunity in patients with ALPS. Elevated numbers and percentages (>1%) of double-negative (CD4-CD8-) T cells, and characteristic pathologic findings in lymph nodes or spleen are other important diagnostic features. In this report, we present the clinical, immunologic, and pathologic features of two children who were diagnosed with ALPS. The early recognition of ALPS in children with enlarged lymph nodes, hepatosplenomegaly, and autoimmune hematologic features has important diagnostic and prognostic value in avoiding expensive and time-consuming studies and unnecessary treatments. The ratio of CD4-CD8- T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in these patients in order to establish an early diagnosis and treatment.
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Doenças Autoimunes/diagnóstico , Transtornos Linfoproliferativos/diagnóstico , Feminino , Hepatomegalia , Humanos , Imunofenotipagem , Lactente , Linfonodos/patologia , Transtornos Linfoproliferativos/imunologia , Esplenomegalia , Subpopulações de Linfócitos T/imunologiaRESUMO
A case of a 12-year-old girl presenting with headache and splenomegaly and fulfilling the diagnostic criteria of polycythemia vera is reported. Her peripheral blood values were as follows: hemoglobin 18 g/dL, red blood cells 7,000,000/mm3, while blood cells 22,000/mm, and platelets 1,248,000/mm3. Phlebotomy was performed initially but was ineffective. Afterward 100 mg/kg per day aspirin and 30/mg/kg per day hydroxyurea were given. The patient has been asypmtomatic for 1 year and her recent hemoglobin level is 15.5 g/dL, platelet count 922,000/mm3, and white blood cell 12,800/mm3. Polycythemia vera is an extremely uncommon disease in childhood and for this reason its treatment is not well established.