ABSTRACT
Objective: To assess the pulmonary function of children with transfusion-dependent thalassemia, and to correlate its pattern with serum iron status. Methods: Cross-sectional study done in the pediatrics department of a tertiary care hospital from June, 2018 to May, 2019. 66 children aged 5-18 years with ?-thalassemia and HbE/?-thalassemia, admitted for blood transfusion, and with a history of minimum 20 transfusions, were enrolled. Estimation of forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and FEV1/FVC ratio by spirometer, estimation of serum ferritin and CRP, and chest X-rays were done in all the participants. Results: 53 (80.3%) children had HbE/?-thalassemia, and 47 (71.2%) showed restrictive pulmonary dysfunction. The mean serum ferritin with impaired pulmonary function was 5616 (70.34) ng/mL and serum ferritin level had significant correlation with pulmonary function (P<0.001). Conclusion: Restrictive pattern of pulmonary dysfunction was common in children with thalassemia, and body iron status had a significant association with pulmonary impairment.
ABSTRACT
Background: '-thalassemia is an autosomal recessive single gene disorder. Physical growth failure is one of the most important complications of thalassemia. Very few data regarding growth pattern of thalassemic children is available from India especially North East part. Keeping this in mind, present study was undertaken. To study the growth pattern of transfusion dependent thalassaemic children and to compare growth pattern between regularly and irregularly transfused children.Methods: A cross-sectional observational study was done on 38 thalassaemic patients (aged 2 years-12 years) who attended Department of Pediatrics, Assam Medical College Dibrugarh. History, physical examination and investigations were done and filled in predesigned proforma.' Anthropometric measurements like weight and height were taken from all patients. Sexual maturity rating was done in girls ?10 years and boys ?11 years. Lab parameters included pre-transfusion hemoglobin (Hb), serum ferritin, LFT, RFT, Thyroid profile. Percentile for weight, height and body mass index were calculated using WHO (2007) reference data. Collected data were compared with age and sex matched normal children.Results: About 34.21% transfusion dependent children had under-nutrition and 50% had stunting. 42% had thinness. Stunting was more in irregularly transfused children (81.25%) as compared to regularly transfused children which was highly significant (p<0.001). Under-nutrition among irregularly transfused children was more (40%) compared to regularly transfused children (28.57%). Pubertal spurt was delayed in 66% children. Those who had Hb <5 gm/dl had 100% stunting and under-nutrition.Conclusions: Regular blood transfusion with growth monitoring and appropriate iron chelation (Sr. Ferritin >1000 ng/ml) is of utmost importance in transfusion dependent thalassaemic children.
ABSTRACT
Background: The hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Data pertaining to the pattern of hemoglobinopathies and thalassemias is scarce in North East India, and hence it was considered worthwhile to study these disorders using a large series of patients referred to a clinical diagnostic laboratory. Aims: A total of 9000 patients referred for Hb variant analysis were studied to identify hemoglobinopathies and thalassemias in Upper Assam region of North East India. Materials and Methods: This study was performed by high performance liquid chromatography (HPLC) using BIORAD variant Hb typing system. Results: Out of 9000 patients studied, abnormal Hb fractions were seen in 5320 patients. The HbE gene was detected in 4315 patients of which HbE trait was seen in 2294 followed by HbE disease in 1892. There were 114 HbE beta thalassemia patients and 15 double heterozygotes of HbE with HbS or HbD. Beta thalassemia trait was seen in 313 patients and beta thalassemia homozygous in 32. HbS gene was detected in 460 patients comprising of HbS trait in 189, HbS disease in 203, S beta thalassemia in 53 and double heterozygotes of SD and ES in 15. The rest comprised of HbD trait in 6, delta beta thalassemia in 33, hereditary persistence of fetal hemoglobin trait in 5 and J chain hemoglobinopathy in 8 patients. Evidence of alpha thalassemia though suspected, could not be confi rmed. Conclusion: A high incidence of hemoglobinopathies and thalassemias and their combinations is unique for this part of the country.