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Molecular Basis of Thalassemia Intermedia in Pakistani Population

Thesis Info

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Author

Shakila Ashraf

Program

PhD

Institute

Baqai Medical University

City

Karachi

Province

Sindh

Country

Pakistan

Thesis Completing Year

2008

Thesis Completion Status

Completed

Subject

Hematology

Language

English

Link

http://prr.hec.gov.pk/jspui/handle/123456789/259

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726679243

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The main objectives for this study were to determine the molecular basis of the disease resulting in the particular clinical phenotype of thalassemia intermedia in Pakistan, to identify the factors affecting genotype – phenotype relationship, to determine the possibility for a consistent prediction of phenotype severity from the genotype factors and to asses their relative importance. Thalassemia Intermedia is clinically and genetically heterogeneous and the genotype is retrospective. However, the disease being of milder form is characterized by late commencement of transfusion, lesser degree of anemia and greater survival time. In this study one consistent factor having a fair ground for the classification was the age of the patient at presentation. Age of the patients in this study was between 2.5 – 36 years. These patients in the radiance of presentation were grouped in four categories; Severe, Moderate, Mild and Very Mild depending on the transfusion commencement. Eleven different beta chain mutations were identified, IVSI-5 = 46 %, Fr 8-9 = 11.5 %, Cap+1 = 10%,, Cd30 = 7.0%, IVSI-I 6.5%, HbE = 6%, HbS = 3%, Del 619 = 1.5 %, Cd15 = 1.0%, Fr 41 – 42 = 0.5%, Fr16 = 0.5% and δβ = 5%. However, 1.5 % of the alleles remained unknown. Out of 100 samples tested for Xmn-I polymorphism 79 were found to be positive, 36 % for +/+ genotype and 43% for -/+ genotype and 21% were negative for the genotype. The samples were also tested for δβ mutations and 5 of them were found to be homozygous. Deletions for α- chain were observed in 30% of the samples, all of them had α3.7 deletions out which 8 % had - α/ - α deletions , 21% had -α/αα deletions and 1% had - - / - α deletions (Table 3.46). Frequency of Alpha Thalassemia in different ethnic groups were determined which revealed that alpha thalassemia mutations are more prevalent in Sindhis, Punjabis and Mahajirs. Relating phenotype to genotype is complicated by complex interaction of the environment and other genetic factors such as coinheritance of other hemoglobin mutations. Alpha thalassemia and Xmn-I predominantly contributed the phenotype. Hemoglobinopathies account for only 9% of the patients. Compound heterozygosity was another factor involved particularly with the assistance of Xmn-I polymorphism and coexistence of α- Thalassemia. Xmn-I +/+ and Hemoglobin S mutation accounted for 9% of cases. To establish a comprehensive diagnosis program the problem of detection of an ability to produce fetal hemoglobin, inheritance of β+ Thalassemia genes and inheritance of α Thalassemia and other factors ameliorating the disease should be defined and incorporated. Molecular basis of thalassemia intermedia as defined in this study explains the involvement of different factors that tend to develop the disease phenotype. However, no single factor finds an authority for the discipline of mildness and thus require cooperation of the elements serving in amelioration.
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Taṣawwuf in Islam

Sufism is an important branch of Islam. Sufism is nothing other than Islamic teachings.  Because of Sufism, human beings can correct their outward actions as well as inward actions. This requires a spiritual guide to achieve this goal. Without a spiritual guide, common man cannot reach this point. Therefore, the common man should have allegiance to a spiritual guide. Pledge is a Sunnah process. Some psychic and greedy people have joined the ranks of Sufism and have dropped the value ​​of Sufism and Taṣawwuf in the eyes of the people and have incorporated innovations within Sufism. The public became abhorrent from Sufism. That is why, Sufism itself was declared wrong. The fact is that there are some bad people in the Sufism. Those people are wrong but Sufism cannot be blamed for this. Sufism is present in other religions besides Islam. In order to understand Sufism, it is necessary to read the terms and conditions of this knowledge so that the reality of Sufism is revealed.

A Comparison of Caesarean Section Rates Before and After Introduction of Free Maternity Services at Maragua Level Iv Hospital

Introduction: At population level, a caesarean section (CS) rate between 10 and 15 percent is considered optimal for maternal and infant health outcomes and a useful process indicator of quality of care. However, that there has been a worldwide increase of CS rates in the past three decades. Compared to vaginal birth, questions abide of appropriateness, balance of risk versus benefit and cost implications to the health care system. Introduction of free maternity services (FMS) in June 2013has been known to increase health facility deliveries. However it may affect the quality of care offered in these facilities due to a strain in human and financial resources. Caesarean section rates and more importantly the potentially preventable CS can be used as a measure of quality of care as suggested by the World Health Organization (WHO). Objectives: The primary objectives included a comparison of CS rates three years before and three years after FMS and to study the effect of FMS on indications particularly the rate of potentially preventable CS (Robson group 1-4) before and after introduction of FMS. The secondary objective was the effect of FMS on short term adverse maternal and neonatal outcomes of the CSs. Methods: The study was conducted in Maragua Level IV Hospital in Muranga County, using a cross-sectional retrospective before and after study. The implementation of FMS services in June 2013 were used as the midpoint. The source was the obstetric database with the pre-implementation period being (June 2010 to May 2013) and post-implementation period (June 2013 to May 2016). A sample size of 1182 was calculated, distributed proportionally between the two arms; 264 in the pre-FMS and 918 post-FMS period. Proportionate sampling to ensure equal distribution of the sample proportional to the percentage of all CS in each year was used. A data collection tool based on the Robson Classification was employed to collect relevant data from the CS files. Maternal and neonatal outcomes were analysed. Comparisons of the change in variables were done by use of two sample test of independent proportion and Chi-square test as appropriate. Results: The hospital deliveries increased from (n=4518) in the pre-FMS period to (n=8612) after introduction of FMS; 557 women (12.3%) had a Caesarean Section in the pre FMS period as compared to 1998 (23.2%) in the post FMS years, an increase of 10.9% (p<0.001) in CS rate. There were no significant changes in outcomes of maternal and