scholarly journals ProfilingβThalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Ravindra Kumar ◽  
Vandana Arya ◽  
Sarita Agarwal
Keyword(s):  
Prenatal Screening ◽  
Uttar Pradesh ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Diagnostic Strategies ◽  
Prenatal Diagnostic ◽  
The Family ◽  
Screening And Prevention ◽  
Awareness Programme

Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth.

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

2017 ◽  
Vol 137 (3) ◽  
pp. 175-182 ◽  
Author(s):  
Nikolaos Sousos ◽  
Despoina Adamidou ◽  
Philippos Klonizakis ◽  
Alexandra Agapidou ◽  
Stamatia Theodoridou ◽  
...  
Keyword(s):  
Middle Eastern ◽  
Thalassemia Major ◽  
Extramedullary Hematopoiesis ◽  
Biological Factor ◽  
Beta Thalassemia ◽  
Eastern Region ◽  
Hematopoietic Tissue ◽  
Multicenter Studies ◽  
Clinical Issue

Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study. In total, the study enrolled 104 patients. EMH was revealed in 15/104 (14%) patients. The presence of intravening sequence (IVS)-I-6 was significantly related with the development of EMH (p < 0.05). No other demographic or biological factor studied was found to be related with the presence of EMH. The study stresses a profound incidence of asymptomatic EMH in a solid group of well-transfused ΤΜ patients. Given the high incidence of the IVS-I-6 allele in the Mediterranean and Middle Eastern region, high-quality, prospective, multicenter studies could confirm the association of EMH occurrence with the presence of the IVS-I-6 mutation and further evaluate the exact role of this mutation in the EMH process.

scholarly journals Atrial Fibrillation and Beta Thalassemia Major: The Predictive Role of the 12-lead Electrocardiogram Analysis

2014 ◽  
Vol 14 (3) ◽  
pp. 121-132 ◽  
Author(s):  
Vincenzo Russo ◽  
Anna Rago ◽  
Bruno Pannone ◽  
Maria Carolina Mayer ◽  
Anna Spasiano ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Predictive Role

scholarly journals The Role of Heart Rate Variability and Fragmented QRS for Determination of Subclinical Cardiac Involvement in Beta-Thalassemia Major

Pulse ◽  
2020 ◽  
Vol 8 (1-2) ◽  
pp. 15-20
Author(s):  
Mozhgan Parsaee ◽  
Amir Farjam Fazelifar ◽  
Elham Ansaripour ◽  
Azita Azarkeyvan ◽  
Behshid Ghadrdoost ◽  
...  
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Cardiac Involvement ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Fragmented Qrs ◽  
Beta Thalassemia Major

scholarly journals Role of serum cystatin-C and beta-2 microglobulin as early markers of renal dysfunction in children with beta thalassemia major

2017 ◽  
Vol Volume 10 ◽  
pp. 261-268 ◽  
Author(s):  
Ola Galal Behairy ◽  
Eman Abd Almonaem ◽  
Neveen Abed ◽  
Omima Abdel Haiea ◽  
Rasha Zakaria ◽  
...  
Keyword(s):  
Renal Dysfunction ◽  
Cystatin C ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Serum Cystatin C ◽  
Serum Cystatin ◽  
Early Markers ◽  
Beta 2 ◽  
Beta 2 Microglobulin

scholarly journals Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Mohammad Reza Mahdavi ◽  
Hosein Karami ◽  
Mohammad Taghi Akbari ◽  
Hosein Jalali ◽  
Payam Roshan
Keyword(s):  
Prenatal Screening ◽  
Married Couple ◽  
Globin Gene ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Common Mutation ◽  
Screening Programs ◽  
Rare Mutations ◽  
Hereditary Disorders ◽  
Screening And Diagnosis

Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia.Case Presentation. A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found.Conclusion. This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases.

scholarly journals Correlation of Oxidative Stress with Serum Trace Element Levels and Antioxidant Enzyme Status in Beta Thalassemia Major Patients: A Review of the Literature

Anemia ◽  
2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Q. Shazia ◽  
Z. H. Mohammad ◽  
Taibur Rahman ◽  
Hossain Uddin Shekhar
Keyword(s):  
Oxidative Stress ◽  
Trace Elements ◽  
Antioxidant Enzymes ◽  
Tissue Injury ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Trace Element Levels ◽  
Serum Trace Elements

Beta thalassemia major is an inherited disease resulting from reduction or total lack of beta globin chains. Patients with this disease need repeated blood transfusion for survival. This may cause oxidative stress and tissue injury due to iron overload, altered antioxidant enzymes, and other essential trace element levels. The aim of this review is to scrutinize the relationship between oxidative stress and serum trace elements, degree of damage caused by oxidative stress, and the role of antioxidant enzymes in beta thalassemia major patients. The findings indicate that oxidative stress in patients with beta thalassemia major is mainly caused by tissue injury due to over production of free radical by secondary iron overload, alteration in serum trace elements and antioxidant enzymes level. The role of trace elements like selenium, copper, iron, and zinc in beta thalassemia major patients reveals a significant change of these trace elements. Studies published on the status of antioxidant enzymes like catalase, superoxide dismutase, glutathione, and glutathione S-transferase in beta thalassemia patients also showed variable results. The administration of selective antioxidants along with essential trace elements and minerals to reduce the extent of oxidative damage and related complications in beta thalassemia major still need further evaluation.

GIRLS EDUCATION UNDER SARVA SIKSHA ABHIYAAN: A STUDY IN FOUR DISTRICTS OF UTTAR PRADESH (INDIA)

2017 ◽  
Vol 4 (36) ◽  
Author(s):  
Jasim Ahmad
Keyword(s):  
Elementary Education ◽  
Uttar Pradesh ◽  
Modern Society ◽  
Or Education ◽  
Men And Women ◽  
The Family ◽  
The Status ◽  
Important Position ◽  
Equal Educational Opportunities

Men and women are the two driving wheels of society; both depend on each other. In the ancient, medieval and pre-modern periods the societies remained patriarchal in nature. Modern and post-modern society has brought sea changes in the perception of men towards women. Now women hold a better position, respect and dignity. Women have proved, through various examples that they can work rubbing shoulders with men in all walks of life. This progression has created the demand for equal educational opportunities to men and women. As women carry a dual role of homemakers as well as professionals, they are placed in a more important position to be the center of gravity of the family. Due to this remarkable significance, education of girls has become more important. Reaching out to each and every girl child is central to the efforts of universalizing elementary education. SarvaShikshaAbhiyan (SSA) or ‘Education for All’ (EFA) Programme recognizes that ensuring girl’s education requires changes, not only in the education system of the state, but also in societal attitudes. The Present paper discusses the status and prospects of girls’ education in the four districts of Uttar Pradesh (India) in the light of schemes launched under SarvaShikshaAbhiyan (SSA), implemented in the entire country in 2001.

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