PEDIATRIC HEMATOLOGY AND ONCOLOGY

The majority of the anemias during childhood are hypochromic and microcytic. The aim of the present study was to determine the status of alpha-thalassemia mutations and its association with other etiologies, such as iron deficiency anemia (IDA) and beta-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 alpha-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 beta-thalassemia trait were diagnosed in 67.4% (n = 31) and 19.5% (n = 9), respectively. In 17.4% there were alpha-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% alpha-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 alpha-thalassemia, in 1 patient (2.2%) association between beta and alpha-thalassemia was detected. In conclusion, alpha-thalassemia carrier status and its association with other etiologies are frequently seen in Manisa. So, alpha-thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemias, especially in cases without iron deficiency (ID) and beta-thalassemia carrier state