نتایج جستجو برای: belt thalassemia

تعداد نتایج: 38502  

2013
Ghobad Moradi Ebrahim Ghaderi

BACKGROUND: β-thalassemias (beta-thalassemia) is the most common genetic disorder; it is an inherited globinopathy which is transmitted to people due to a mutation in genes that create globin chain. In Iran, the disease gene is more common in the northern and southern regions. It is estimated that more than 60 mutations of the disease exist in different geographical areas of Iran. Iran has begu...

2015
Rao Singh

Background: Hemoglobinopathies and betathalassemia is one of the most common autosomal disorders worldwide different molecular mechanisms, most of which are base substitution or small deletions or insertions of one or two nucleotides in the globin genes. It has been found that hemoglobinopathies and β-thalassemia mutations are relatively populations specific; each ethnic group has its own set o...

Journal: :Blood 1992
H H Kazazian C E Dowling R L Hurwitz M Coleman A Stopeck J G Adams

Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...

2013
Zohreh Rahimi

There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Ir...

Journal: :Blood 1981
C Q Edwards M H Skolnick J P Kushner

A pedigree was studied in which five individuals with beta-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults, ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve...

2011
Sedigheh Amooee Alamtaj Samsami Jamileh Jahanbakhsh Mehran Karimi

BACKGROUND β-thalassemia is the most common hereditary disease in Iran and more than 2 million carriers of the β-thalassemia mutant gene are living in this country. OBJECTIVE To determine pregnancy outcome of women with β-thalassemia minor. MATERIALS AND METHODS In this retrospective, case-control study in two universities affiliated hospitals in Shiraz, all pregnancies occurred between 200...

2014
S. B. Satpute M. P. Bankar A. Momin G. M. Bhoite

The present study was carried out to evaluate the effectiveness of NESTROFT as a screening test for β-thalassemia trait. Naked Eye Single Tube Red cell Osmotic Fragility Test [NESTROFT] is an uncumbersome and inexpensive test for the detection of βthalassemia. NESTROFT was applied to 150 patients of β-thalassemia trait and 150 normal control samples. The test was successful in detecting 143 sub...

Journal: :Jurnal kesehatan vokasional 2021

Latar Belakang: Pandemi coronavirus disease 2019 (COVID-19) yang disebabkan oleh virus SARS-CoV-2 di awal tahun 2020 menyebabkan Pembatasan Sosial Berskala Besar (PSBB) Kota Palembang. Hal ini kemungkinan memengaruhi kesempatan penderita thalassemia untuk melakukan kontrol teratur dan mendapat transfusi darah karena rumah sakit rujukan sebagian besar terletak Palembang.Tujuan: Untuk mengetahui ...

Journal: :Open Access Macedonian Journal of Medical Sciences 2022

BACKGROUND: Thalassemia is a genetic blood disorder and has not been cured. children need special attention from the family as one of efforts in treating with thalassemia depends on coping strategies owned by family. AIM: This research aimed to discover deeply explore caring for major aged 6–12 years. METHODS: study used quantitative qualitative approaches (mixed methods). For we total sampling...

2013
Ayhan YAMAN Pamir ISIK Nese YARALI Selmin KARADEMIR Semra CETINKAYA Ali BAY Serdar OZKASAP Abdurrahman KARA Bahattin TUNC

Even the life span has prolonged for the last 40 years, increase in frequently seen complications with increasing age negatively affect the life quality of thalassemia patients. In our study, complications encountered in 67 ß-thalassemia patients who were followedup at our hospital between 1 January 2004 and 31 May 2009 were retrospectively analyzed. Fifty-six patients were followed up with dia...

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