Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece.

Abstract:

:The hematologic phenotype was characterized in heterozygotes for three of the most common beta-thalassemia mutations in the Greek population. The study included 17 carriers of beta++ IVS1-n6 (T-->C), 21 carriers of beta+ IVS1-n110 (G-->A), and 17 carriers of beta 0 CD39 (C-->T). The 55 beta-thalassemia heterozygotes were selected from among parents of patients on regular transfusion regimens, and the beta-thalassemia mutation was identified by means of the polymerase chain reaction to amplify the appropriate region of the beta-globin gene and then by allele-specific oligonucleotide hybridization. The assessment of hematologic phenotype included complete blood count and quantitation of hemoglobin HbA2 and HbF and of the globin chain biosynthesis ratio. Comparison and statistical analysis of the hematologic parameters for the three mutations demonstrated no consistent correlation among the three mutations relative to Hb levels, hematocrit, and red cell indices, although heterozygotes for the IVS1-n6 mutation produce red blood cells with slightly higher mean corpuscular volume; significantly lower values of HbA2 (mean, 3.81% +/- 0.62% with four values less than 3.60%) in IVS1-n6 heterozygotes compared with IVS1-n110 heterozygotes (mean, 4.69% +/- 0.48%) and CD39 heterozygotes (mean, 4.75% +/- 0.50%, P < 0.001); and significantly higher HbF levels in CD39 heterozygotes (mean, 2.31% +/- 1.52%) compared with IVS1-n6 heterozygotes (mean, 0.79% +/- 0.45%, P < 0.01) and IVS1-n110 heterozygotes (mean, 1.17% +/- 0.75%, P < 0.01). With respect to the HbA2 levels, the findings are in agreement with previous studies in Mediterranean populations; the slightly higher levels of HbF in CD39 heterozygotes appear to be reported for the first time.

journal_name

Pediatr Hematol Oncol

authors

Stefanis L,Kanavakis E,Traeger-Synodinos J,Tzetis M,Metaxotou-Mavromati A,Kattamis C

doi

10.3109/08880019409141689

subject

Has Abstract

pub_date

1994-09-01 00:00:00

pages

509-17

issue

5

eissn

0888-0018

issn

1521-0669

journal_volume

11

pub_type

杂志文章
  • Leukapheresis in childhood acute leukemias: single-center experience.

    abstract::Hyperleukocytosis in patients with leukemia is associated with early mortality, especially due to the pulmonary and neurological complications of leukostasis. The prompt use of leukapheresis may improve patients' survival in the initial treatment period. The medical records of all previously untreated acute leukemia p...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2013.818747

    authors: Yilmaz D,Karapinar B,Karadaş N,Duyu M,Yazici P,Ay Y,Balkan C,Aydinok Y,Kavakli K

    更新日期:2014-05-01 00:00:00

  • Metastatic osteosarcoma to the liver after treatment for synovial sarcoma: a case report.

    abstract::Metastatic osteosarcoma most commonly affects the lungs and other bones. Hepatic metastasis at the time of diagnosis is extremely rare. A 14-year-old boy with synovial sarcoma of the left popliteal fossa was treated with surgical resection, radiotherapy for microscopic residual disease, and 1 year of chemotherapy (vin...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/088800101300002955

    authors: Daw NC,Kaste SC,Hill DA,Kun LE,Pratt CB

    更新日期:2001-03-01 00:00:00

  • How to interpret high levels of distress when using the Distress Thermometer in the long-term follow-up clinic? A study with Acute Lymphoblastic Leukemia survivors.

    abstract:OBJECTIVES:Recent guidelines recommend to assess emotional distress in pediatric oncology during treatment and in after care. One tool used to do this is the distress thermometer (DT), a simple tool which has almost exclusively been studied in its screening abilities. Given its increased used as a measure of distress p...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880018.2017.1338805

    authors: Pépin AJ,Lippé S,Krajinovic M,Laverdière C,Michon B,Sinnett D,Sultan S

    更新日期:2017-04-01 00:00:00

  • Pheochromocytoma diagnosed in an enuretic boy after imipramine-induced hypertension.

    abstract::A pheochromocytoma was diagnosed in a 14-year-old boy developing hypertension after treatment with imipramine for primary nocturnal enuresis. The mechanism of action is assumed to be an inhibition of the neuronal uptake of catecholamines being released in large quantities from the tumor. The diagnosis of pheochromocyt...

    journal_title:Pediatric hematology and oncology

    pub_type: 信件

    doi:10.3109/08880018609031228

    authors: Birkebaek NH,Perrild BD

    更新日期:1986-01-01 00:00:00

  • Complicated pulmonary aspergillosis with pneumothorax and pneumopericardium in a child with acute lymphoblastic leukemia.

    abstract::Invasive aspergillosis is a fungal infection that is being observed increasingly in immunocompromised patients due to the use of more aggressive chemotherapeutic regimens. To our knowledge, no case of pneumothorax and pneumopericardium associated with invasive pulmonary aspergillosis has been reported to date. High-do...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019509029555

    authors: Merino JM,Díaz MA,Ramírez M,Ruano D,Madero L

    更新日期:1995-03-01 00:00:00

  • Evaluation of patients with intracranial tumors and central diabetes insipidus.

    abstract::The aim of the study is to evaluate the etiologic and clinical characteristics, treatment regimens, and outcome of the patients with intracranial tumors presenting with central diabetes insipidus (DI). Sixty-nine patients with intracranial tumors presenting with central DI between 1972 and 2012 were retrospectively ev...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2013.816984

    authors: Varan A,Atas E,Aydın B,Yalçın B,Akyüz C,Kutluk T,Büyükpamukçu M

    更新日期:2013-10-01 00:00:00

  • Advanced nasopharyngeal carcinoma in the young: The Northern Israel Oncology Center experience, 1973-1991.

    abstract::Between 1973 and 1991, 10 patients with locally advanced [stages III and IV] nasopharyngeal carcinoma were treated at the Northern Israel Oncology Center. All patients were treated with wide-field irradiation to the primary tumor, including the base of skull, neck, and supraclavicular region. After 1984, 6 patients al...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019509029568

    authors: Arush MW,Stein ME,Rosenblatt E,Lavie R,Kuten A

    更新日期:1995-05-01 00:00:00

  • 18F-fluorodeoxyglucose uptake of bone and soft tissue sarcomas in pediatric patients.

    abstract::A high (18)F-fluorodeoxyglucose (FDG) uptake by positron emission tomography/computed tomography (PET/CT) imaging in sarcomas of adults has been reported. The current study aimed at defining the degree of (18)F-FDG uptake of pediatric sarcomas. This retrospective study included 29 patients (23 males, 6 females; mean a...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2011.602180

    authors: Walter F,Federman N,Apichairuk W,Nelson S,Phelps ME,Allen-Auerbach M,Walter MA,Czernin J

    更新日期:2011-10-01 00:00:00

  • No protective effect of breastfeeding on inhibitor formation in severe hemophilia.

    abstract::It has been suggested that breastfeeding may prevent inhibitor formation in patients with hemophilia. In a single-center retrospective cohort study, the authors studied the association between breastfeeding and inhibitor development in 90 severe hemophilia A patients born 1975-2003. Mean follow-up was 13.2 years (stan...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880010500198764

    authors: Jansen IM,Fischer K,Van Der Bom JG,Van Den Berg HM

    更新日期:2005-10-01 00:00:00

  • MYCN amplification by differential PCR.

    abstract::A method is described to estimate MYCN (N-myc) oncogene amplification in neuroblastoma by the technique of differential polymerase chain reaction (PCR). The technique is quicker than conventional Southern blotting techniques and does not require radioactive materials. The ability to measure MYCN amplification from sma...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019309016525

    authors: Huddart SN,Mann JR,McGukin AG,Corbett R

    更新日期:1993-01-01 00:00:00

  • Transfusion and chelation practices in sickle cell disease: a regional perspective.

    abstract::Although most common in tropical regions, population migration has meant that sickle cell disease is now one of the most prevalent genetic diseases worldwide. The issues and challenges faced by physicians and patients have been discussed by an international group of experts representing 4 key regions: the USA, Europe,...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2010.505506

    authors: Vichinsky EP,Ohene-Frempong K,Thein SL,Lobo CL,Inati A,Thompson AA,Smith-Whitley K,Kwiatkowski JL,Swerdlow PS,Porter JB,Marks PW

    更新日期:2011-03-01 00:00:00

  • Nesiritide in a pediatric oncology patient with renal insufficiency and myocardial dysfunction following septic shock.

    abstract::Nesiritide is a recombinant formulation of B-type natriuretic peptide used most commonly in the treatment of adults with decompensated congestive heart failure. The physiologic effects of BNP include natriuresis, diuresis, and smooth muscle relaxation. These physiologic effects result in its beneficial therapeutic eff...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880010590935248

    authors: Wheeler AD,Tobias JD

    更新日期:2005-06-01 00:00:00

  • Vanilmandelic acid and homovanillic acid levels in patients with neural crest tumor: 24-hour urine collection versus random sample.

    abstract::Neuroblastoma is the most common solid tumor in childhood and is the most frequent neural crest tumor (NCT). More than 90% of the patients excrete high levels of vanilmandelic acid (VMA) and homovanillic acid (HVA) in the urine. Original biochemical methods for measuring these two metabolites of catecholamines employe...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019709009495

    authors: Gregianin LJ,McGill AC,Pinheiro CM,Brunetto AL

    更新日期:1997-05-01 00:00:00

  • Li-Fraumeni syndrome in a Turkish family.

    abstract::Li-Fraumeni syndrome (LFS) is one of the familial cancers characterized by different tumors and hereditary TP53 mutations. The adrenocortical carcinoma (ACC) association with acute leukemia is unusual in childhood, even in LFS. The authors here present a family with pR337P mutation in TP53 gene who had a child with ac...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880011003663374

    authors: Karakas Z,Tugcu D,Unuvar A,Atay D,Akcay A,Gedik H,Kayserili H,Dogan O,Anak S,Devecioglu O

    更新日期:2010-05-01 00:00:00

  • Transient encephalopathy following a single exposure of high-dose methotrexate in a child with acute lymphoblastic leukemia.

    abstract::An episode of transient encephalopathy after the first course of intravenous high-dose methotrexate (HD-MTX; 1000 mg/m2) was observed in a 4-year-old girl with acute lymphoblastic leukemia. The neurological abnormalities took place 5 days after HD-MTX therapy. She experienced complex partial seizure and left hemipares...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019209018331

    authors: Kubo M,Azuma E,Arai S,Komada Y,Ito M,Sakurai M

    更新日期:1992-04-01 00:00:00

  • Amputee skiers: lofty ambassadors in the rehabilitation of cancer.

    abstract::Adolescence is characterized by inter-related physiologic and emotional development. It is a particularly vulnerable period of life culminating into emergence as an adult. The majority of malignant bone tumors in pediatrics affect the adolescent patient. As a part of the treatment, amputation may be required for cure....

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880010490477374

    authors: Jaffe N,Zietz H

    更新日期:2004-09-01 00:00:00

  • Evaluation of peripheral lymphadenopathy in children.

    abstract::The aim of this study was to evaluate children with lymphadenopathy and clinical approach to the suspicion of malignancy. The authors evaluated 457 patients with peripheral lymphadenopathy, less than 19 years of age, and referred to the Pediatric Oncology Department of Gazi University Medical School during the periods...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880010600856907

    authors: Oguz A,Karadeniz C,Temel EA,Citak EC,Okur FV

    更新日期:2006-10-01 00:00:00

  • A variant of myelokathexis with hypogammaglobulinemia: lymphocytes as well as neutrophils may reverse in response to infections.

    abstract::A 7-year-old boy with prolonged and marked leukopenia diagnosed at 6 months of age is described. The polymorphonuclear cells presented no hypersegmented nuclei or concentrated nuclear chromatin, although vacuolated myeloid cells appeared in bone marrow smears. Neutrophils reversed in response to administration of G-CS...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/088800100276532

    authors: Arai J,Wakiguchi H,Hisakawa H,Kubota H,Kurashige T

    更新日期:2000-03-01 00:00:00

  • α-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with β-thalassemia, iron deficiency anemia.

    abstract::The majority of the anemias during childhood are hypochromic and microcytic. The aim of the present study was to determine the status of α-thalassemia mutations and its association with other etiologies, such as iron deficiency anemia (IDA) and β-thalassemia trait, that are frequently seen hypochromic microcytic anemi...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2012.661831

    authors: Gulen H,Hanimeli O,Karaca O,Taneli F

    更新日期:2012-04-01 00:00:00

  • Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece.

    abstract::Homozygous beta-thalassemia is usually characterized by severe anemia requiring regular blood transfusion for survival. For homozygous patients with milder clinical manifestations and no dependence on transfusion therapy, the term thalassemia intermedia is usually applied. Genetic mechanisms that may ameliorate the cl...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019509029526

    authors: Kanavakis E,Traeger-Synodinos J,Tzetis M,Metaxotou-Mavromati A,Ladis V,Kattamis C

    更新日期:1995-01-01 00:00:00

  • Fever and neutropenia hospital discharges in children with cancer: A 2012 update.

    abstract::Fever and neutropenia (FN) is a common precipitant for hospitalization among children with cancer, but hospital utilization trends are not well described. This study describes national trends for hospital discharges for FN among children with cancer for the year 2012, compared with the authors' previous analysis from ...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章,多中心研究

    doi:10.3109/08880018.2015.1102998

    authors: Mueller EL,Croop J,Carroll AE

    更新日期:2016-02-01 00:00:00

  • Spontaneous acute cerebral hematoma in a child with factor XIII deficiency.

    abstract::Factor XIII deficiency is a very rare bleeding disorder. We report here on the clinical outcome of a young child with intracranial bleeding due to factor XIII deficiency. Clinicians should bear in mind that severe factor XIII deficiency is associated with a significant risk of unexpected intracranial hemorrhage (ICH)....

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2013.798059

    authors: Bay A,Sirikci A,Dogan A,Leblebisatan G,Yilmaz F

    更新日期:2013-11-01 00:00:00

  • Inflammatory pseudotumor of the lung in children.

    abstract::Two children with inflammatory pseudotumor (IPT) of the lung are reported. Symptomless "cystic" lesions were present on routine chest x ray. Morphological study of these peculiar lesions included light microscopic, immunohistochemical, and ultrastructural analysis. Histologic appearance of the lesion varied from the f...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019109033439

    authors: Vujanić GM,Dojĉinov D

    更新日期:1991-04-01 00:00:00

  • Delayed Granulocyte Colony-Stimulating Factor (G-CSF) Administration after Chemotherapy Reduces Total G-CSF Doses without Affecting Neutrophil Recovery in a Randomized Clinical Study in Children with Solid Tumors.

    abstract::The use of G-CSF after myelotoxic chemotherapy accelerates neutrophil recovery reducing the risk of febrile neutropenia. Current guidelines recommend initiating G-CSF 24 hours after myelotoxic chemotherapy. However, the optimal timing of post-chemotherapy G-CSF administration has not been elucidated. Our previous work...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.1080/08880018.2020.1779885

    authors: Yankelevich M,Hoogstra DJ,Abrams J,Chu R,Bhambhani K,Taub JW

    更新日期:2020-11-01 00:00:00

  • Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.

    abstract::Hemophagocytic lymphohistiocytosis (HLH) embraces the frequently indistinguishable conditions of familial hemophagocytic lymphohistiocytosis (FHL) and virus-associated hemophagocytic syndrome (VAHS). Without therapy FHL is invariably fatal, but successful therapy, including chemotherapy and immunotherapy followed by b...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:

    authors: Al-Lamki Z,Wali YA,Pathare A,Ericson KG,Henter JI

    更新日期:2003-12-01 00:00:00

  • Secondary malignant neoplasms after childhood cancer.

    abstract::Overall survival from cancer has greatly improved, although it still remains the second leading cause of mortality in the world. This result was achieved through the use of chemotherapy and radiotherapy, which are severely toxic to normal tissues. In the long-term follow-up of cancer patients, the development of secon...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章,评审

    doi:10.3109/08880018.2011.553879

    authors: Varan A,Kebudi R

    更新日期:2011-08-01 00:00:00

  • Disaccharidases activity in the intestinal mucosa after methotrexate therapy.

    abstract::Disaccharidases activity in the intestinal mucosa samples of rats was examined after intragastric and intramuscular methotrexate therapy. Methotrexate was given on a twice a week schedule (1 mg/kg body weight). The animals were sacrificed after 2 weeks, 1 month, and 2 months of this therapy. A statistically significan...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019009033397

    authors: Dyduch A,Steplewski Z,Koehler M,Piszka B

    更新日期:1990-01-01 00:00:00

  • Surgical management of Wilms tumor with intravascular extension: a single-institution experience.

    abstract::The purpose of this study was to retrospectively analyze the clinical presentation, treatment, and outcomes of children with Wilms tumor (WT) and intravascular extension who were treated at a single institution. A retrospective review was conducted of medical records of all children with Wilms tumor and intravascular ...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880018.2011.642941

    authors: Aspiazu D,Fernandez-Pineda I,Cabello R,Ramirez G,Alvarez-Madrid A,De Agustin JC

    更新日期:2012-02-01 00:00:00

  • Multidisciplinary management of osteosarcoma: experience in Hong Kong.

    abstract::All pediatric osteosarcomas treated in our hospital between 1985 and 1995 were reviewed. There were 26 patients, 15 males and 11 females, aged 20 or less at diagnosis. All had limb primaries. Nineteen patients had localized disease and seven presented with metastases. Intensive multiagent chemotherapy was given both p...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章

    doi:10.3109/08880019809028789

    authors: Kwong DL,Ha SY,Chau KY,Choi PH,Chan GC,Kwong PW,Lau YL

    更新日期:1998-05-01 00:00:00

  • Disseminated malignant ectomesenchymoma (MEM): case report and review of the literature.

    abstract::Malignant ectomesenchymoma (MEM) is a rare soft tissue tumor believed to arise from a pluripotent migratory neural crest cell and composed fo both a mesenchymal element and a neuroectodermal element. The authors report the case of an 11-month-old male who presented with a local abdominal MEM and systemic metastases in...

    journal_title:Pediatric hematology and oncology

    pub_type: 杂志文章,评审

    doi:10.1080/088800102753356149

    authors: Müller HL,Marx A,Trusen M,Schneider P,Kühl J

    更新日期:2002-01-01 00:00:00