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

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dc.contributor.authorGulen H.
dc.contributor.authorHanimeli O.
dc.contributor.authorKaraca O.
dc.contributor.authorTaneli F.
dc.date.accessioned2024-07-22T08:19:32Z
dc.date.available2024-07-22T08:19:32Z
dc.date.issued2012
dc.description.abstractThe 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. © 2012 Informa Healthcare USA, Inc.
dc.identifier.DOI-ID10.3109/08880018.2012.661831
dc.identifier.issn15210669
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17725
dc.language.isoEnglish
dc.subjectAdolescent
dc.subjectalpha-Thalassemia
dc.subjectAnemia, Hypochromic
dc.subjectAnemia, Iron-Deficiency
dc.subjectbeta-Thalassemia
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDiagnosis, Differential
dc.subjectFemale
dc.subjectHumans
dc.subjectIncidence
dc.subjectInfant
dc.subjectMale
dc.subjectMutation
dc.subjectTurkey
dc.subjectalpha globin
dc.subjectferritin
dc.subjecthemoglobin
dc.subjectiron
dc.subjectadolescent
dc.subjectalpha thalassemia
dc.subjectarticle
dc.subjectbeta thalassemia
dc.subjectchild
dc.subjectclinical article
dc.subjectdisease association
dc.subjectelectrophoresis
dc.subjectfemale
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjecthigh performance liquid chromatography
dc.subjecthuman
dc.subjectinfant
dc.subjectiron binding capacity
dc.subjectiron blood level
dc.subjectiron deficiency anemia
dc.subjectmale
dc.subjectmorbidity
dc.subjectpolymerase chain reaction
dc.subjectpreschool child
dc.subjectschool child
dc.titleα-thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with β-thalassemia, iron deficiency anemia
dc.typeArticle

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