title: 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 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.
authors.affiliation: Department of Pediatrics, Celal Bayar University Faculty of Medicine, Manisa, Turkey. huseyingulen@hotmail.com
authors.forename: Huseyin
authors.initials: H
authors.lastname: Gulen
authors.forename: Ozlem
authors.initials: O
authors.lastname: Hanimeli
authors.forename: Ozlem
authors.initials: O
authors.lastname: Karaca
authors.forename: Fatma
authors.initials: F
authors.lastname: Taneli
mesh_terms: D000293:Adolescent; D000747:Anemia, Hypochromic / Q000175:diagnosis / Q000209:etiology*; D018798:Anemia, Iron-Deficiency; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D008297:Male; D009154:Mutation; D014421:Turkey / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics; D017086:beta-Thalassemia