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thalassemia pakistan

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
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
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
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
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
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
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
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
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
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
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
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
U Zaidi, M Borhany, S Ansari, S Parveen, S Boota, I Shamim, D Zahid, T Shamsi
BACKGROUND: In Pakistan routine blood group typing of thalassemia patients identifies ABO and Rh(D) antigens only. Therefore, other antigen incompatibilities between blood donor and blood recipient may cause alloimmunisation. OBJECTIVE: The aim of this study was to estimate the frequency of alloimmunisation and to evaluate the risk factors associated with its development in beta (β)-thalassemia patients receiving regular blood transfusions. MATERIALS AND METHODS: In total 162 β thalassemia patients were included in this study...
April 2015: Transfusion Medicine
Humaira Maheen, Farrukh Malik, Barera Siddique, Asim Qidwai
Thalassemia is the leading haemoglobinopathy after sickle cell anemia that accounts for 1.5 % of the global population. In Pakistan, every 1-4 per 1000 infants suffers from Thalassemia. Regardless of being a population "at high risk" for Thalassemia major, evidence suggest that Pakistanis possess poor knowledge of the disease. The present study aimed to assess parents' accurate knowledge about Thalassemia disease at Afzaal Memorial Thalassemia Foundation in Karachi, Pakistan. A total of 172 parents of existing patients who were receiving regular blood transfusion from the center were included in the study...
December 2015: Journal of Genetic Counseling
Shafi Mohammad Khosa, Muhammad Usman, Moinuddin Moinuddin, Hassan Osman Mehmood, Khansa Qamar
BACKGROUND: The present study is designed to evaluate the reliability and cost effectiveness of cellulose acetate Hb electrophoresis and high performance liquid chromatography (HPLC) in the determination of HbA2 levels. METHODS: The test population comprised 160 individuals divided into four groups: normal individuals, β-thalassemia trait (BTT) patients, iron deficiency anemia (IDA) patients, and co-morbid patients (BTT with IDA). HbA2 levels determined using cellulose acetate Hb electrophoresis and HPLC were compared...
March 2015: Blood Research
Jabbar Khan, Nafees Ahmad, Sami Siraj, Naseruddin Hoti
This study covers the molecular characterization of clinically diagnosed β-thalassemia intermedia (β-TI) patients in Pakistan. Blood samples of β-TI patients were collected from all four provinces of Pakistan throughout the period of 2011-2013. The study was carried out using allele-specific primers through polymerase chain reaction or sequencing to determine both α- and β-thalassemia (α- and β-thal) mutations, and restriction enzymes for the characterization of β-globin gene arrangements. In a total of 63 patients, the IVS-I-5 (G > C) was the most frequent mutation (33...
2015: Hemoglobin
Nadia Waheed, Shafqut Ali, Muhammad Asghar Butt
BACKGROUND: Thalassemia major is the most common genetic disorder in Pakistan. The study was done to compare the efficacy and safety of the deferiprone with deferrioxamine for the treatment of iron overload in children with thalassemia major. METHODS: This randomized controlled trail was conducted at thalassemia blood transfusion unit of Allied Hospital, Faisalabad (AHF)/District Headquarter Hospital (DHQ), Faisalabad. Thalassemia-Unit Hilal-e-Ahmar, Alizeb Foundation and Blood Bank Services Faisalabad from November 2010 to December 2011...
July 2014: Journal of Ayub Medical College, Abbottabad: JAMC
Amita Trehan, Nivedita Sharma, Reena Das, Deepak Bansal, R K Marwaha
There are an estimated 200 million carriers of the β-thalassemia gene worldwide, 20 million being in India. The mean prevalence in India is 3.3 %. Objective To evaluate the clinico-investigational profile and the demographic characteristics of patients with thalassemia major (TM). Methods This was a retrospective analysis of the clinico-demographic profile at presentation of patients of TM diagnosed in the Paediatric Hematology Clinic of our hospital. Results The clinical profile of 964 patients of TM was analyzed...
March 2015: Indian Journal of Hematology & Blood Transfusion
Ghufranud Din, Sajid Malik, Ihsan Ali, Safia Ahmed, Javid Iqbal Dasti
OBJECTIVE: To evaluate current situation regarding the prevalence of hepatitis C virus (HCV) in thalassemic patients visiting a thalassemia centre in Rawalpindi District, Pakistan for supportive therapy. METHODS: Serum samples were screened for hepatitis B surface antigen and anti-HCV by using commercially available ELISA kit. Micro-plate reader was used to perform analysis based on the absorbance/cut-off ratios. Samples were considered positive or negative. Results from ELISA were analyzed statistically...
September 2014: Asian Pacific Journal of Tropical Medicine
Tazeen Majeed, Mohammed Adil Akhter, Ujala Nayyar, Muhammad Safwan Riaz, Jovaria Mannan
BACKGROUND: Thalassemia major is one of the most common genetic disorders in Pakistan and over five thousand new patients are added in the pool annually. This familial disease has both medical and social implications, and therefore there is a need to assess the magnitude of beta-Thalassemia trait amongst family members of Thalassemia major patients. METHODS: This cross-sectional descriptive study enrolled 674 blood samples from first degree relatives of registered patients of Thalassemia major at Sir Ganga Ram Hospital, Lahore...
July 2013: Journal of Ayub Medical College, Abbottabad: JAMC
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