Modifiers of γ-Globin Gene Expression and Treatment of β-Thalassemia

Beta thalassemia (β-thalassemia) is an autosomal recessive genetic disease with many genes involved. It is a heterogeneous disorder caused by variations in the inactivation mechanism of the Beta-globin (β-globin) genes. Despite seemingly similar genotypes, the patients with Beta-thalassemia have a remarkable variability in anaemia, growth development, and hepatospleenomegaly and transfusion requirements. The genetic factors may differ in each race or ethnic group for therapy and prevention. Despite remarkable successes in the treatment of Beta-thalassemia in the past decades, it is still the leading cause of death and premature disability in developed and developing countries. Possible factors that influence the severity of anaemia in thalassemia may be inherited or non-inherited. The inherited factors include the type of β-thalassemia, coinheritance of alpha thalassemia (α-thalassemia) and factors that stimulate fetal hemoglobin (HbF) production. In this chapter, respective contributions of known modifiers and also the pharmaceutical agents currently in use and under clinical trials for regulating the globin gene expression will be discussed

A cross-sectional study on prevalence of menstrual problems, lifestyle, mental health, and PCOS awareness among rural and urban population of Punjab, India

Introduction Menstrual cycle gets affected by various modifiable risk factors. To assess prevalence of various types of menstrual problems, lifestyle and mental health status, identification of variables as predictors for menstrual problems and level of polycystic ovary syndrome (PCOS) awareness among rural and urban population of Punjab, the present study has been carried out. Methods The study was conducted from November 2019 to July 2020 in the Malwa region of Punjab, India, with 2673 participants (15–25 years). Epidemiological information was collected using predesigned questionnaire along with depression, anxiety and stress (DASS-21) score mental health assessment tool. MS-Excel (2019) and IBM SPSS 18.0 (SPSS Inc., Chicago, IL) was used for statistical analysis. Results The overall prevalence of different menstrual problems was 60.61%, with dysmenorrhea (50.64%) being most common problem. Body mass index (BMI), menarche age, physical activity, and mental health status are significant (p < 0.05) predictors of menstrual problem both in rural and urban population. Overall, only 3.30% subjects were aware about PCOS. Conclusion Dysmenorrhea is the most common menstrual problem, both in rural and urban population. BMI, sedentary lifestyle, electronic gadgets usage, and mental health are associated with menstrual problems. Low awareness on PCOS indicates need to create awareness as the condition can be easily managed with early intervention

Apert's syndrome: study by whole exome sequencing

In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of previously reported P253R mutation in gene. Presence of two SNPs rs1047057 and rs554851880 in gene with an allelic frequency of 0.5113 and 0.001176 respectively and 161 complete damaging mutations were found. This study is the first reported case of exome sequencing approach on an Apert's syndrome patient aimed at providing better genetic counselling in a non-consanguineous relationship