Background: We report cascade testing of a large Pakistani family for β-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births. Objective: The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of β-thalassemia in Pakistan. Methods: In this large family with an index case, 27 available living members were tested for β-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family. Results: There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of β-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions. Conclusion: Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of β-thalassemia in order to reduce disease occurrence through awareness and genetic counseling.

Background: Multiple blood transfusions are the mainstay of thalassemic patients in order to combat the severe anemia. These frequent blood transfusions result in the excessive iron deposition, leading to multiple injuries to a variety of organs in the body. In response to these injuries, the levels of various enzymes are disturbed. The whole phenomena usually involve the interrelation of one parameter with some other. The present study aimed to estimate the levels of serum ferritin and hepatic enzymes and to find out any possible correlation between them in thalassemic patients receiving multiple blood transfusions. Methods: A total number of 90 thalassemic patients of both sexes ranging from 10-15 years, receiving multiple blood transfusions were included in the present study. Blood samples from all the patients were withdrawn and analyzed for the values of serum ferritin, hemoglobin and hepatic enzymes (serum alanine transaminase, serum aspartate transaminase, serum alkaline phosphatase). Pearson correlation coefficient was applied to observe correlation between serum ferritin level and hepatic enzymes. A P value of ≤0.05 was considered statistically significant. Results:The overall values of serum ferritin, and hepatic enzymes (serum Alanine Transaminase, serum Aspartate Transaminase, serum Alkaline Phosphatase) were remarkably increased than their normal values. However, hemoglobin level was considerably decreased in thalassemic patients. A weak positive insignificant correlation was observed between serum ferritin with hepatic enzymes and hemoglobin in thalassemic patients. Conclusion: Multiple blood transfusions cause iron overload in the body, which in turn, lead to increased serum ferritin levels in thalassemic patients. High levels of hepatic enzymes are somewhat correlated to serum ferritin concentration. However, the exact reason of elevated levels is still unclear. Further detailed studies should be conducted in order to identify the exact mechanism behind this and to search for the promising correlations of various parameters in thalassemic patients receiving multiple blood transfusions.

One of the main goals of bioinformatics is to understand and analyze the 3D structure of proteins and the relationship between amino acid sequences. With the help of amino acid sequences, the protein structure can easily be predicted as proteins are essential in natural science research and they are linked with evolution, drug development, mutation and the occurrence of different diseases directly or indirectly. Biologists used bioinformatics tools to discover different diseases by knowing protein’s structure and functions rather than using different technologies/experimental tools which can’t completely explains proteins, its structure and role in several diseases. Prostate Cancer is the leading cause of cancer deaths in males worldwide, it’s least common in Asia and more common in western countries. The study was conducted for the bioinformatics analysis of Prostate cancer proteins.