نتایج جستجو برای: thalassemia

تعداد نتایج: 20990  

2018
Suparak Para Punchalee Mungkalasut Makamas Chanda Issarang Nuchprayoon Srivicha Krudsood Chalisa Louicharoen Cheepsunthorn

Background The protective effect of α-thalassemia, a common hematological disorder in Southeast Asia, against Plasmodium falciparum malaria has been well established. However, there is much less understanding of the effect of α-thalassemia against P. vivax. Here, we aimed to investigate the proportion of α-thalassemia including the impact of α-thalassemia and HbE on the parasitemia of P. vivax ...

2017
Alexandra Agapidou Paul King Cecilia Ng Dimitris A. Tsitsikas

Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...

2016
Januária F. Matos Luci M.S. Dusse Karina B.G. Borges Ricardo L.V. de Castro Wendel Coura-Vital Maria das G. Carvalho

BACKGROUND The most common microcytic and hypochromic anemias are iron deficiency anemia and thalassemia trait. Several indices to discriminate iron deficiency anemia from thalassemia trait have been proposed as simple diagnostic tools. However, some of the best discriminative indices use parameters in the formulas that are only measured in modern counters and are not always available in small ...

Journal: :Journal of research in health sciences 2016
Firooz Esmaeilzadeh Azita Azarkeivan Sara Emamgholipour Ali Akbari Sari Mehdi Yaseri Batoul Ahmadi Mohtasham Ghaffari

BACKGROUND Major Thalassemia is an autosomal recessive disease with complications, mortality and serious pathology. Today, the life expectancy of patients with major thalassemia has increased along with therapeutic advances. Therefore, they need lifelong care, and caring for them would incur many costs. Being aware of the patients' costs can be effective for controlling and managing the costs a...

2015
Cem Sahin Ozcan Basaran Ibrahim Altun Fatih Akin Yasar Topal Hatice Topal Murat Biteker Mehmet Fatih Azik

BACKGROUND This study aimed to assess myocardial performance index (MPI) and arterial elasticity indices in asymptomatic patients with beta-thalassemia major without known heart disease and to determine relationship between these indices and parameters indicating iron load of body. METHODS The study included 55 asymptomatic beta-thalassemia patients (median age: 20 years (10 - 48 years)) with...

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...

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