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Thalassemia Minor

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Thalassemia minor is a heterozygous condition in which one of the two alleles carries a mutant gene sequence. The carrier of beta-thalassemia minor does not show the severe symptoms of beta-thalassemia. However, if a beta-thalassemia carrier individual marries a thalassemia carrier woman, there is a 25% chance to transfer the disease to their offspring.  Screening of beta-thalassemia minor Carriers of beta-thalassemia may experience milder anemia and have fewer RBCs as compared to non-carrier individuals. In order to decrease the incidence of beta-thalassemia major, carriers must be screened for beta-thalassemia traits before marriage. Carrier counseling should be recommended to married couples to overcome the higher incidence of beta-thalassemia. There are different types of screening programs implemented at the national level including pre-marital screening, antenatal screening, and prenatal screening to control the rapidly increasing prevalence of beta-thalassemia. The pr...

Thalassemia

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Today, Thalassemia is one of the most prevalent hemoglobinopathies affecting millions of people worldwide. Thalassemia has become a major health concern globally. 65, 000 children are born with beta-thalassemia major every year. The prevalence of beta-thalassemia is increasing day by day due to a lack of awareness, increasing population, and cousin marriages. According to statistical reports, 1 of 100,000 individuals suffers from beta-thalassemia major worldwide. Thalassemia is characterized by a substitution mutation in the beta-globin gene. Hemoglobin supplies oxygenated blood throughout our bodies.  Symptoms of Beta Thalassemia Symptoms of beta-thalassemia include Pallor, hypoxia, jaundice, fatigue, and loss of appetite. The person suffering from beta-thalassemia requires regular blood transfusion once a week to survive. Due to continuous blood transfusion, there is an excess iron built up resulting in toxicity to other body organs including the liver, heart, pancreas, etc. So, ...

Epigenetic

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Genes are regulated by transcription regulators and enhancers. However, several other mechanisms are involved to functionally express a gene. Suppose a script is directed by specific regulators to express a particular gene sequence. If a cell is meant to produce a specific protein, the gene will be activated to produce a certain trait or protein. The false gene regulation can result into certain disorders, one of the predominant examples is cancer. In cancer, the transcription factors regulating cell division are mutated.   Difference between genetics and epigenetics Genetics is the transfer of genetic information from parent to offspring whereas epigenetic involves the process that control gene expression. The environment has a great influence on the expression of genes. So, if two individual are genetically similar, there may be a greater differences regarding the phenotypes due to changes in the gene expression. The genetic material is same but the expression is different. ...