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https://www.readbyqxmd.com/read/29067088/ethical-issues-in-managing-lysosomal-storage-disorders-in-children-in-low-and-middle-income-countries
#1
REVIEW
Bushra Afroze, Nick Brown
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people. In recent years, the introduction of enzyme replacement therapy, substrate reduction therapy and small molecule therapy, has changed the natural course of this otherwise progressive group of disorders leading to severe morbidity and early mortality. These treatment options, however, are extremely expensive and are needed for life thus presenting an economical as well as ethical challenge to the affected families and the health care system of a country...
July 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28934514/new-bioinformatics-based-discrimination-formulas-for-differentiation-of-thalassemia-traits-from-iron-deficiency-anemia
#2
Abdul Hafeez Kandhro, Watshara Shoombuatong, Virapong Prachayasittikul, Pornlada Nuchnoi
Thalassemia traits (TTs) and iron deficiency anemia (IDA) are the most common disorders of hypochromic microcytic anemia (HMA). The present study aimed to differentiate TTs from IDA by analyzing discrimination formulas and provides comprehensive data of hemoglobin disorders prevalent in Pakistan. Among 12 published discrimination formulas, 6 formulas-MI, EF, G&K, RDWI, R, and HHI-were the most reliable to discriminate TTs from IDA. The failure cutoff values were improved by the random forest (RF) decision-tree approach...
August 1, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#3
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28745572/prevalence-of-thalassemia-traits-and-iron-deficiency-anemia-in-sindh-pakistan
#4
Abdul H Kandhro, Virapong Prachayasittikul, Chartchalerm Isarankura Na-Ayudhya, Pornlada Nuchnoi
Among microcytic hypochromic anemias, the most common disorders are iron deficiency anemia and co-pathological conditions such as α- or β-thalassemia (α- or β-thal) traits. The aim of the present study was to determine the frequency and prevalence of iron deficiency anemia and α- or β-thal traits based on clinical laboratory data across different ethnic groups in five districts of Sindh Province, Pakistan. The present retrospective study analyzed 3 years (2012-2015) of encoded and unlinked clinical laboratory data, and identified 3030 microcytic hypochromic anemia cases...
July 26, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28670940/rare-%C3%AE-globin-gene-mutations-in-pakistan
#5
Ahsan Hussain, Suhaib Ahmed, Nadir Ali, Hamid S Mailk, Mariam Anees, Altaf H Chuahdry, Parvez Ahmed
The aim of this study was to analyze the rare β-thalassemia (β-thal) mutations in the Pakistani population. A total of 8716 unrelated Pakistani individuals having children with transfusion-dependent thalassemia were investigated by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for the previously reported common and rare β-thal mutations. Genomic sequencing of the β-globin gene and its immediate 5' and 3' flanking regions was done where no known mutation was found. Out of the 8716 individuals studied, 88 (1...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#6
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28603069/the-case-for-high-resolution-extended-6-loci-hla-typing-for-identifying-related-donors-in-the-indian-subcontinent
#7
Rajat Kumar Agarwal, Ankita Kumari, Amit Sedai, Lalith Parmar, Rakesh Dhanya, Lawrence Faulkner
Three-loci low-resolution (LR) or intermediate-resolution HLA typing is generally considered adequate in the related blood and marrow transplantation (BMT) context. However, a single high-resolution (HR) mismatch may have a similar adverse impact on BMT outcome as an LR one. We sought to determine the frequency of mismatches that may go undetected when standard typing (LR or 3-loci HR) is used compared with 6-loci HR typing for related donor compatibility testing, and to assess its impact on relevant BMT outcomes...
September 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28523047/alpha-thalassemia-deletions-found-in-suspected-cases-of-beta-thalassemia-major-in-pakistani-population
#8
Saba Shahid, Muhammad Nadeem, Danish Zahid, Jawad Hassan, Saqib Ansari, Tahir Shamsi
BACKGROUND & OBJECTIVE: Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries. The most common deletion reported in alpha thalassemia in Pakistani population was -α(3.7) with a frequency of 8.3%, and the rare forms were -α(4.2) (0.2%) and ααα(anti3...
March 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28179703/evaluation-of-five-discriminating-indexes-to-distinguish-beta-thalassemia-trait-from-iron-deficiency-anaemia
#9
Zahid Ullah, Aamer Ali Khattak, Sara Arif Ali, Javaid Hussain, Badshah Noor, Raheela Bano, Muhammad Amin Jan Mahsud
OBJECTIVE: To assess the reliability of different red blood cell indices-based formulae in the indexes formula in differential diagnosis of beta thalassemia trait and iron deficiency anaemia. METHODS: This cross-sectional study was conducted between January and October 2015 in Dera Ismail Khan in the Khyber Pakhtunkhwa province of Pakistan. Patients of beta thalassemia trait and iron deficiency anaemia were registered irrespective of age and gender. About 5 mL of blood was taken from each patient to analyse different red cell parameters like red blood cell count, haemoglobin, mean cell volume, mean cell haemoglobin, mean cell haemoglobin concentration, and red cell distribution width...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27761563/effect-of-iron-overload-on-renal-functions-and-oxidative-stress-in-beta-thalassemia-patients
#10
Mahmood Rasool, Arif Malik, Uzma Jabbar, Irshad Begum, Mahmood H Qazi, Muhammad Asif, Muhammad I Naseer, Shakeel A Ansari, Jummanah Jarullah, Absarul Haque, Mohammad S Jamal
To check the amount of cellular damage caused by serial transfusions of blood in thalassemia patients.  Methods: A cross-sectional study was conducted in the University of Lahore, Lahore, Pakistan between August 2012 and December 2012. A total of 43 thalassemia patients underwent at least 10 blood transfusions. Comprehensive biochemical analysis of blood was performed to record the levels of creatinine, urea, uric acid, albumin, liver function tests, malondialdehyde (MDA), and ferritin.  Results: Serum creatinine (0...
November 2016: Saudi Medical Journal
https://www.readbyqxmd.com/read/27263053/the-molecular-characterization-of-beta-globin-gene-in-thalassemia-patients-reveals-rare-and-a-novel-mutations-in-pakistani-population
#11
Humaira Yasmeen, Sarmad Toma, Natalie Killeen, Shahida Hasnain, Letizia Foroni
INTRODUCTION: A multicentre study (including four cities in Pakistan) aimed to investigate the frequency and spectrum of alpha and beta thalassemia genetic mutations and XmnI polymorphism of the Gamma Globin gene. METHODS: One hundred and sixty one beta thalassemia patients, identified on the ground of haematological parameters, were screened for mutations of the Alpha (HBA2 and HBA1) and Beta (HBB) Globin genes as well as Gamma (HBG2) Globin gene, -158 Gγ XmnI polymorphism, using a combination of multiplex GAP polymerase chain reaction (PCR), Sanger sequencing and restriction fragment length polymerase (RFLP) based PCR...
August 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27182268/investigation-of-molecular-heterogeneity-of-%C3%AE-thalassemia-disorder-in-district-charsadda-of-pakistan
#12
Muhammad Shakeel, Muhammad Arif, Shoaib Ur Rehman, Tabassum Yaseen
OBJECTIVE: Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells (RBC), a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa. METHODS: This work was done at Abdul Wali Khan University (AWKU) Mardan, Khyber Pakhtunkhwa, Pakistan...
March 2016: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/27164519/burden-of-cardiac-siderosis-in-a-thalassemia-major-endemic-population-a-preliminary-report-from-pakistan
#13
Najveen Alvi, Fateh A Tipoo, Ahmed Imran, Muhammad N Ashraf, Asim Qidwai, Mohammed Khursheed, Bushra Moiz, Salman N Adil, Zehra Fadoo, Sadaf Altaf, Dudley J Pennell, Babar S Hasan
OBJECTIVE: To describe the initial experience and demographics of T2* cardiac magnetic resonance-based myocardial-iron quantification of transfusion-dependent thalassemia-major (TM) patients from Pakistan and the correlation with serum ferritin. METHODS: Eligible TM patients presenting between April 2014 and April 2015 to Aga Khan University Hospital, Pakistan, for T2*CMR were included. The severity of myocardial-iron deposition was defined as follows: normal T2*>20 ms, mild-moderate T2*10 to 20 ms, and severe T2*<10 ms...
July 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27069747/thalassemia-extramedullary-hematopoiesis-and-spinal-cord-compression-a-case-report
#14
Syed Sarmad Bukhari, Muhammad Junaid, Mamoon Ur Rashid
BACKGROUND: Extramedullary hematopoiesis (EMH) refers to hematopoiesis outside of the medulla of the bone. Chronic anemia states such as thalassemia can cause hematopoietic tissue to expand in certain locations. We report a case of spinal cord compression due to recurrent spinal epidural EMH, which was treated with a combination of surgery and radiotherapy. Pakistan has one of the highest incidence and prevalence of thalassemia in the world. We describe published literature on diagnosis and management of such cases...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27006658/biochemical-markers-of-bone-turnover-in-patients-with-%C3%AE-thalassemia-major-a-single-center-study-from-southern-pakistan
#15
Sadia Sultan, Syed Mohammed Irfan, Syed Ijlal Ahmed
Objectives. Skeletal complications in β-homozygous thalassemic patients are uncommon but often debilitating, even amongst children and adolescent patients with well maintained transfusion and chelation therapy. The aim is to evaluate the biochemical markers of bone turnover in regularly transfused thalassemic patients and its possible correlations with demographic data and hematological and biochemical markers. Methods. In this prospective cross-sectional study, 36 β-thalassemia major patients were enrolled from March 2012 to March 2014...
2016: Advances in Hematology
https://www.readbyqxmd.com/read/26968293/haemoglobin-sickle-d-disease-a-presentation-with-ischaemic-stroke
#16
Hasnain Afzal, Syed Farrukh Umair
Haemoglobin-D, Los Angeles or Haemoglobin D-Punjab is not a rare variant of haemoglobin worldwide especially in Punjab, North western India, and South Asian continent. It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology. However, these variants can co-exist rarely with other haemoglobinopathies such as thalassemia or haemoglobin-S. We describe the case of doubly heterozygous Hb-SD Punjab in a 8 year old girl who presented with ischaemic stroke...
March 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/26568681/estimation-of-hepatitis-b-virus-hepatitis-c-virus-and-different-clinical-parameters-in-the-thalassemic-population-of-capital-twin-cities-of-pakistan
#17
Umar Saeed, Yasir Waheed, Muhammad Ashraf, Usman Waheed, Sadia Anjum, Muhammad Sohail Afzal
Hepatitis B and C are serious public health problems worldwide. Thalassemia patients are dependent on blood transfusions throughout their life and are at high risk of viral infections. The aim of this study was to estimate the prevalence of hepatitis B/C infections and different clinical parameters in multitransfused thalassemia population. In this study, 262 multitransfused β-thalassemia patients were enrolled from the capital twin cities of Pakistan. The presence of hepatitis B virus (HBV)/hepatitis C virus (HCV), alanine aminotransferase (ALT) level, serum creatinine, serum ferritin, hepatomegaly, splenomegaly, and splenectomy were analyzed...
2015: Virology: Research and Treatment
https://www.readbyqxmd.com/read/26440830/premarital-genetic-screening-for-beta-thalassemia-carrier-status-of-indexed-families-using-hba2-electrophoresis
#18
Aneeqa Nosheen, Habib Ahmad, Iftikhar Qayum, Noaman Siddiqui, Fida Muhammad Abbasi, Muhammad Sajjad Iqbal
OBJECTIVE: To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS: The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood Care Centre, Abbottabad, in Pakistan's Khyber Pakhtunkhwa province. Electrophoretic separation of human haemoglobin like A, F, S and C was done and then haemoglobin in the gel was immobilised in a fixative solution and the gel was dried to a film...
October 2015: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/26393119/serendipity-a-rare-discovery-of-haemoglobin-d-iran-in-an-indian-female-during-routine-antenatal-screening-for-%C3%AE-thalassemia
#19
Rittu Surjit Chandel, Abhishek Roy, Leela Gul Abichandani
Haemoglobin D is a rare form of haemoglobinopathy in homozygous form. However, the heterozygous form of the disease is clinically silent and relatively easier to find in North-West India, Pakistan and Iran. Haemoglobin D is sometimes found to be coexistent with Haemoglobin S and/or Thalassaemia leading to clinically significant conditions like sickle cell anaemia with mild to moderate splenomegaly. In India the more prevalent form is Haemoglobin D-Punjab (also known as Hb D- Los Angeles) which has a prevalence of 2% in Punjab and around 1% in Gujarat...
July 2015: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/26182728/xmni-polymorphism-and-disease-severity-in-patients-with-beta-thalassemia-from-northern-pakistan
#20
Tamoor Bin Hanif, Suhaib Ahmed, Jaleel Anwar, Syed Kazim Abbas Kazmi
BACKGROUND: Thalassemia is a heterogeneous disorder and several genetic factors influence the severity of thalassemia. An accurate and early diagnosis of a mild thalassemia genotype helps to avoid unnecessary transfusion and its complications. The aim of this study is to identify the association between XmnI polymorphism and disease severity in patients with beta-thalassemia from northern Pakistan. METHODS: The cross sectional study was conducted at the Department of Haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi, from September 2006 to June 2009...
January 2015: Journal of Ayub Medical College, Abbottabad: JAMC
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