Screening of Extended Family Members of Thalassemia Major Children as a Thalassemia Preventive Strategy.

Background: Thalassemia is considered as the most common single gene disorder worldwide. Preventive measures include identification of thalassemia carriers (traits) through screening, genetic counselling and prenatal diagnosis to reduce the incidence. This study aims at estimating the prevalence of carrier status detection among the extended family members of children having thalassemia major so as to use it as a screening prevention strategy with appropriate counselling. Methods: This cross-sectional study was conducted in thalassemia unit of Pediatric Department of a tertiary care teaching hospital over a period of 18 months. Blood samples were collected from 117 extended family members (EFM) of 23 children with thalassemia major to carry out investigations such as Complete Blood Counts (CBC), Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT), Reticulocyte count, High Performance Liquid Chromatography(HPLC) and serum ferritin. Reports were analysed to find out the prevalence of carriers. Results: Among 117 EFM, 62 (52.9%) were males while 55(47.1%) were females. Mean age distribution in this study was 16.49 years (8.5). Prevalence of thalassemia trait (carrier) was 35%. NESTROFT test was positive in 57(48.7%) participants. The binary logistic regression found only positive NESTROFT test as a predictor (adjusted OR=0.022, P=0.001) of having raised HbA2 (HbA2≥3.5 %). Conclusion: Screening of thalassemia carrier by targeting extended family members of thalassemia major children could yield more carrier cases and targeted counselling could help effectively in decreasing the number of children born with thalassemia major. This strategy could be included in future plan of national prevention programme for thalassemia.

Predictors of mortality in hospitalized children with pandemic H1N1 influenza 2009 in Pune, India.

OBJECTIVE: To analyse the factors associated with increased mortality among Indian Children with H1N1. METHODS: Data were abstracted from available hospital records of children less than 12 y of age, who were admitted to Sassoon General Hospital in Pune, India, with confirmed pandemic 2009 H1N1 influenza infection from August 2009 through January 2010. Logistic regression analysis was used to identify clinical characteristics associated with mortality. RESULTS: Of 775 pediatric cases admitted with Influenza Like Illness (ILI), 92 (11.8%) had confirmed H1N1 influenza infection. The median age of HIN1 cases was 2.5 y; 13 (14%) had an associated co-morbid condition. Median duration of symptoms was 4 d (interquartile range (IQR), 3-7 d). All 92 H1N1 cases received oseltamivir and empiric antimicrobials on admission. Intensive care unit (ICU) admission was required for 88 (96%) children, and 20 (23%) required mechanical ventilation.Fifteen children (16%) died; mortality was associated with presence of diffuse alveolar infiltrate on admission chest radiography (odds ratio (OR) 45, 95%CI :5.4-370; p < 0.001), use of corticosteroids in ARDS in children who required mechanical ventilation (OR 8.12, 95%CI: 2.44-27.05; p = 0.001), SpO(2) <80% on admission (OR 32.8, 95% CI: 5.8-185.5; p < 0.001) and presence of ARDS (OR 345.3, 95% CI :33.5-3564.1; p < 0.001). Necropsy from all children who died showed 9 (60%) had ARDS pattern and necrotizing pneumonitis, diffuse hemorrhage and interstitial pneumonia (n = 4 each, 27%) with gram positive organisms consistent with severe viral and bacterial co-infection. CONCLUSIONS: Hypoxia, ARDS and use of corticosteroids in children with ARDS who were mechanically ventilated were the factors associated with increased odds of mortality. Necropsy also suggested bacterial co-infection as a risk factor.