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 anemias in children. Children with hypochromic microcytic anemias were included in the study. Serum iron (SI), total iron-binding capacity (TIBC), ferritin levels, and hemoglobin electrophoresis with high-performance liquid chromatography (HPLC) method were analyzed. Reverse hybridization of biotinylated polymerase chain reaction (PCR) product method was used for detection of α-globin gene mutations. Of the 46 patients involved in the study, 54.3% (n = 25) were boys, and 45.7% (n = 21) were girls. Iron deficiency anemia and β-thalassemia trait were diagnosed in 67.4% (n = 31) and 19.5% (n = 9), respectively. In 17.4% there were α-thalassemia mutations (in 10.9% 3.7 single-gene heterozygote mutation, in 4.3% 20.5-kb double-gene deletion mutation, and in 2.2% α-2 poly-A-1 heterozygote mutation was detected). In 2 patients (4.3%) no etiology was determined. In 2 patients (4.3%) association between iron deficiency anemia and α-thalassemia, in 1 patient (2.2%) association between β and α-thalassemia was detected. In conclusion, α-thalassemia carrier status and its association with other etiologies are frequently seen in Manisa. So, α-thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemias, especially in cases without iron deficiency (ID) and β-thalassemia carrier state.
journal_name
Pediatr Hematol Oncoljournal_title
Pediatric hematology and oncologyauthors
Gulen H,Hanimeli O,Karaca O,Taneli Fdoi
10.3109/08880018.2012.661831subject
Has Abstractpub_date
2012-04-01 00:00:00pages
241-6issue
3eissn
0888-0018issn
1521-0669journal_volume
29pub_type
杂志文章abstract::Endocrine system dysfunctions are the significant complications of excessive iron overload in beta thalassemia patients. The aim of this study was to evaluate the long-term effect of chelation with deferasirox on endocrine complications. The study group consisted of children with beta thalassemia who had been evaluate...
journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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更新日期:2019-03-01 00:00:00
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journal_title:Pediatric hematology and oncology
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更新日期:2014-03-01 00:00:00
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journal_title:Pediatric hematology and oncology
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更新日期:1991-07-01 00:00:00
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
pub_type: 临床试验,杂志文章
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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abstract::According to the Fifth National Wilms Tumor Study (NWTS-5), tumor-specific loss of heterozygosity (LOH) for chromosomes 1p and 16q identifies a subset of patients with Wilms tumor (WT) who despite having favorable histology (FH) have a significantly increased risk of relapse and death. We aimed to find out 1p and 16q ...
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pub_type: 杂志文章,随机对照试验
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journal_title:Pediatric hematology and oncology
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journal_title:Pediatric hematology and oncology
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