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

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 ß-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 ß-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 ß 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 ß-thalassemia carrier state.

Does having an asthmatic sibling affect the quality of life in children?

Yilmaz Ö, Türkeli A, Karaca Ö, Yüksel H. Does having an asthmatic sibling affect the quality of life in children? Turk J Pediatr 2017; 59: 274-280. Chronic illness in a family member leads to deterioration of quality of life in other members of that family. We aimed to investigate the influence of having an asthmatic sibling on a child`s quality of life (QoL). We enrolled 2-12 year aged healthy children with an asthmatic sibling in the study group and healthy children with a healthy sibling in the control group of this cross-sectional study. Sociodemographic characteristics of children and disease severity characteristics of asthmatic siblings were recorded. All parents filled in Turkish generic PedsQLTM short form appropriate for the child`s age group. Study and control groups had 114 children each. Total PedsQLTM scores were not significantly different in any of the age groups (p=0.23, p=0.13, p= 0.11 respectively). Emotional PedsQLTM sub-scores in children with an asthmatic sibling were significantly worse (83.0±16.5 vs 91.6±10.9 in the 2-4 year age group, 72.0±17.8 vs 92.2±11.6 in the 5-7 year age group, 73.7±24.1 vs 88.7±14.8 in the 8-12 year age group respectively, p≤0.002 for all). Similarly, psychosocial sub-score was significantly lower in the 2-4 and 5-7-year-olds but not the 8-12 year old groups (p=0.01, p=0.01, p=0.08 respectively). In conclusion, healthy children with asthmatic siblings have significantly lower emotional QoL and this needs to investigated for other chronic diseases in further research.