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 Oncoljournal_title
Pediatric hematology and oncologyauthors
Stefanis L,Kanavakis E,Traeger-Synodinos J,Tzetis M,Metaxotou-Mavromati A,Kattamis Cdoi
10.3109/08880019409141689subject
Has Abstractpub_date
1994-09-01 00:00:00pages
509-17issue
5eissn
0888-0018issn
1521-0669journal_volume
11pub_type
杂志文章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
更新日期:2014-05-01 00:00:00
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journal_title:Pediatric hematology and oncology
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doi:10.1080/088800101300002955
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
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更新日期:2017-04-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 信件
doi:10.3109/08880018609031228
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019509029555
更新日期:1995-03-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880018.2013.816984
更新日期:2013-10-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019509029568
更新日期:1995-05-01 00:00:00
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
更新日期:2011-10-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.1080/08880010500198764
更新日期:2005-10-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019309016525
更新日期:1993-01-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880018.2010.505506
更新日期:2011-03-01 00:00:00
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
更新日期:2005-06-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019709009495
更新日期:1997-05-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880011003663374
更新日期:2010-05-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019209018331
更新日期:1992-04-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.1080/08880010490477374
更新日期:2004-09-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.1080/08880010600856907
更新日期:2006-10-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.1080/088800100276532
更新日期:2000-03-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880018.2012.661831
更新日期:2012-04-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019509029526
更新日期:1995-01-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章,多中心研究
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更新日期:2016-02-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
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更新日期:2013-11-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019109033439
更新日期:1991-04-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.1080/08880018.2020.1779885
更新日期:2020-11-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:
更新日期:2003-12-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章,评审
doi:10.3109/08880018.2011.553879
更新日期:2011-08-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019009033397
更新日期:1990-01-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880018.2011.642941
更新日期:2012-02-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章
doi:10.3109/08880019809028789
更新日期:1998-05-01 00:00:00
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journal_title:Pediatric hematology and oncology
pub_type: 杂志文章,评审
doi:10.1080/088800102753356149
更新日期:2002-01-01 00:00:00