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The krupple-like factor 1 (KLF1) is a crucial transcription factor that is responsible for the proper maturation of the erythroid cells. Recent studies have demonstrated that mutations in KLF1 gene may lead to increased fetal hemoglobin (HbF) and reduced or borderline hemoglobin A2 (HbA2) levels. Increased HbF levels and concomitant α-thalassemia are two main modifiers that can ameliorate the clinical and hematological severity of β-thalassemia. Mutations in KLF1 have been found in association with β thalassemia. DNA was extracted with QIAmp DNA Blood kit and quantified spectrophotometrically. Gap PCR was used to screen common HPFH deletions and Sanger's sequencing was done to screen β-globin (HBB) mutations. Libraries were prepared using TruSight One sequencing panel and sequenced on MiSeq Sequencing System. MiSeq Reporter and Variant Studio were used for data analysis. A 56 years male presented with splenomegaly and unconjugated hyperbilirubinemia with normal hematological indices. Hemoglobin high performance liquid chromatography revealed 72.3% HbF, 0.5% HbA 2 and 25.2% HbA 0 . Patient was found to be clinically consistent with mild TI. No mutation/s in HBB was found by Sangers sequencing. Hereditary Persistence of Fetal Hemoglobin (HPFH) deletions [HPFH1, HPFH2, HPFH3, Chinese G -Indian inversiondeletion] were also found to be negative. Targeted resequencing revealed a novel homozygous probably causative mutation in KLF1 [c. 943C>T (p.Arg301Cys)]. This mutation was found to be probably damaging via PolyPhen2 and SIFT. The patient's son showed 5% HbF with heterozygous mutation. This is the first report from India where a homozygous mutation in KLF1 gene is implicated with high HbF in a patient with TI. Thus, mutations which affect the activity of KLF1 gene may lead to high level of fetal hemoglobin in patients presenting as TI with no HBB mutations.

The aim of present work was to extract a yellow colour dye from turmeric rhizome (Curcuma longa) and to use it in the coating of triphala guggle ayurvedic (abbreviated as TGA) tablets. For coating of the TGA tablets the work was completed into two parts- in the first part extraction of dye from turmeric rhizome was carried out and in the second part extracted dye was used to coat the TGA-tablets. The dye extract was used in two forms for dyeing the tablets - firstly as liquid turmeric dye extract (LTDE) and secondly as powdered turmeric dye extract (PTDE). The optimum extraction conditions were settled after studying the effect of solvent, stirring time and temperature on the extraction of dye. The solvents used are water, ethanol and water- ethanol mixture. It was observed that the optimum extraction conditions for turmeric dye extraction were 600c and 75 min stirring time with ethanol as solvent but from industrial point of view it is more economical to use ethanol–water (1:1) mixture for extraction. The extracted LTDE and PTDE were used to coat the TGA tablets. The results showed that the tablet coated with LTDE faded just in 30 days while PTDE coated tablets remained stable up to 40 days. Thus, present coating was suitable for coating the TGA tablets but the environmental factors like temperature and humidity influenced the stability of the coating a lot. The suitability of coating was studied by determining some physico- chemical parameters like average weight, diameter, thickness, friability, disintegration time and loss on drying of LTDE and PTDE coated tablets. The results were within the permissible limit of Indian Pharmacopea and other pharmacopeia. Therefore, coating of tablets with LTDE and PTDE both were found to be suitable for coating the TGA tablet.