نتایج جستجو برای: thalassaemia major

تعداد نتایج: 620506  

2012
MEI I. LAI LILY WONG

T.0b013e32835af7c1 Summary Aims: Classical carriers of b-thalassaemia are identified by a raised HbA2 level. Earlier studies indicated that the Filipino b-deletion has high raised HbA2 levels. The introduction of automated high performance liquid chromatography (HPLC) for thalassaemia screening is an important advance in technology for haematology laboratories. The BioRad Variant II Hb analyser...

Journal: :JPMA. The Journal of the Pakistan Medical Association 2017
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 collect...

2015
J J Chen J A M A Tan K H Chua P C Tan E George

OBJECTIVES Single nucleotide polymorphism (SNP) with a mutation can be used to identify the presence of the paternally-inherited wild-type or mutant allele as result of the inheritance of either allele in the fetus and allows the prediction of the fetal genotype. This study aims to identify paternal SNPs located at the flanking regions upstream or downstream from the β-globin gene mutations at ...

Journal: :Asian Journal of Medicine and Biomedicine 2022

Heterozygous haemoglobin E (Hb E) with deletional alpha (α)-thalassaemia is commonly seen in Southeast Asia including Kelantan, a Northeastern state of Malaysia. Studies Malaysia showed that Hb the commonest among Malay Penang and Senoi group Orang Asli [1-5].
 
 This study aimed to compare haematological parameters (Hb, RBC, MCV, MCH, RDW heterozygous α-thalassaemia subjects. also in...

Journal: :Journal of Ayub Medical College, Abbottabad : JAMC 2009
Muhammad Sohail Arshad Syed Najam Hyder

BACKGROUND Thalassaemia represent one of the most common single gene disorder causing a major public health problem in Pakistan. Nearly 100,000 people are born worldwide with this severe blood disorder every year. Over the last 3 decades, the development of regular transfusion therapy and iron chelation has dramatically improved the quality of life and transformed thalassaemia from a rapidly fa...

2017
Ayşegül Uǧur Kurtoǧllu Belkls Koçtekin Erdal Kurtoǧlu Mustafa Yildiz Selen Bozkurt

AIM OF THE STUDY β-thalassaemia (β-Thal) is considered a severe, progressive haemolytic anaemia, which needs regular blood transfusions for life expectancy. Complement-mediated erythrocyte destruction can cause both intravascular and extravascular haemolysis. Complement regulatory proteins protect cells from such effects of the complement system. We aimed to perform quantitative analysis of mem...

Journal: :Journal of medical genetics 1994
A M Kuliev I M Rasulov T Dadasheva E I Schwarz C Rosatelli L Saba A Meloni E Gemidjioglu M Petrou B Modell

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form ...

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 1998
A CW Lee K W Wong K T So M Y Cheng

Thalassaemia major is a classic example of a disease that is preventable by prenatal diagnosis. Although the technology was introduced to Hong Kong more than a decade ago, new patients are continuously seen in the Hong Kong Administrative Region. This retrospective review concerns children who were diagnosed to have severe beta-thalassaemic syndromes at the Tuen Mun Hospital from 1990 to 1996. ...

2007
M Hashemi E Shirzadi Z Talaei L Moghadas I Shaygannia M Yavari N Amiri H Taheri H Montazeri H Shamsolkottabi

BACKGROUND Thalassaemia is considered the most common genetic disorder worldwide. An association between the heterozygous beta-thalassaemia trait and myocardial infarction has previously been observed. However, the relationship between heterozygous beta-thalassaemia and atherosclerosis, considering other coronary artery disease (CAD) risk factors, has remained unclear. METHODS A case-control ...

ابراهیم دانشیار, , سید عباس حسینی, , عباس مرادی, , علیرضا مرادی, ,

Introduction & Objective: Thalassaemia is a prevalent disease in Iran. The knowledge of couple about thalassaemia at the stage of marriage has an important role in prevention of that. The objective of this study was to determine the knowledge of couple at the stage of Marriage in relation to the thalassaemia in Bahar city, Hamdan province. Materials & Methods: A cross-sectional study w...

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