Assessment of Dietary Behavior of Children Aged between 3-12 Years Suffering from Thalassemia Visiting Tertiary Care Hospitals, Lahore Dietary behavior of Thalassemia children

Thalassemia is a hereditary blood disorder passed down through families in which the body makes hemoglobin in an abnormal form. Nutritional deficiencies in thalassemia children results in anemia and other medical complications. Objective: To assess dietary behavior of children aged between 3-12 years suffering from thalassemia. Methods: A cross-sectional study was carried out in the outdoor patient department of thalassemia at Sir Ganga Ram Hospital, Lahore for 4 months.100 patients were selected through non probability sampling technique. Data was tabulated and analyzed by SPSS version 21.0. Results: Thalassemia was more prevalent in the age group of 8-12 years. Nutritional deficiencies in thalassemia patients caused anemia as it was evident from results that 74% of thalassemic children had pale skin. As far as dietary intake was concerned only 4% of thalassemia children were consuming meat and meat products.58% of thalassemia children consumed milk on daily basis. Only 8% took green leafy vegetables on daily basis as it contains high amount of iron. Micro nutrient deficiencies as vitamin A, C were common among thalassemia patients as only 30% were consuming fruits on daily basis. Conclusions: Most of the thalassemiacchildren were found to be malnourished due to inadequate dietary intake. The caregivers and parents should be counseled to create awareness

Gene Identification in Mendelian Disorders Using Str Mapping, Snp Genotyping and Whole-Exome Sequencing

Recent data from 1000 Genomes Project suggest that human genome has large number of variations. While some of the variations in human genome are tolerated others result in pathogenic consequences. Consanguinity increases the probability of inheriting the variants in homozygous state in children that result in abnormal phenotype. Familial disorders are relatively prevalent in Pakistani population where consanguineous marriages are common practice. In this study, 12 inbred families belonging to various regions of Pakistan and inheriting different genetic disorders were sampled for molecular genetics analysis. Three different mutant gene identification strategies namely STR mapping, SNP array and whole-exome sequencing were used, either separately or complementary to each other. Linkage analysis of candidate genes/loci was done by STR markers and SNP genotyping. Families linked to the candidate genes were Sanger sequenced to identify causal mutations. Families excluded to reported loci were subjected to whole exome sequencing and if required to CytoScan® HD array for copy number variation detection. A series of filtering steps were followed to narrow the spectrum of variations down to a single functional variant among the several thousand variations. This study reports on three novel and six reported mutations responsible for causing familial diseases. A novel mutation, each in a family with hyponychia, Cenani-Lenz syndrome and spastic paraplegia 3A was found. Additionally, evidence were found for polymorphic initiation codon (p:M1I) in RSPO4 gene and for autosomal recessive inheritance in spastic paraplegia 3A. Whole-exome sequencing technology was successfully applied for gene identification in autosomal recessive and autosomal dominant disorders. Specific diagnosis of; spastic paraplegia 3A, pseudoachondroplasia, generalized lipodystrophy using variants derived by exome sequencing suggest that it has a dual role of mutation identification in heterogeneous disorders as well as a diagnostic tool in clinically overlapping phenotypes. The findings of current investigations will set the basis for establishing carrier screening and prenatal diagnosis to control the disease as well as for the better understanding of disease pathways.