نتایج جستجو برای: thalassemia

تعداد نتایج: 20990  

Journal: :Clinical chemistry and laboratory medicine 2009
Paolo Danise Giovanni Amendola Rosanna Di Concilio Enrico Cillari Maria Gioia Anna Di Palma Daniela Avino Paolo Rigano Aurelio Maggio

BACKGROUND The technology to recognize nucleated red blood cells (NRBC) automatically has only recently been developed. Modern hematology analyzers allow for rapid and accurate NRBC counts. The goal of our study was to evaluate NRBC counts and the concentrations of serum transferrin receptor (sTfR) in patients affected by different thalassemia syndromes and hereditary spherocytosis. We wished t...

2017
Sehjeong Kim Abdessamad Tridane

Thalassemia is a genetic blood disorder that causes abnormal hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen and is made of two proteins from four α-globin genes and two β-globin genes. A defect in one or more of these genes causes thalassemia. The treatment of thalassemia mostly depends on life-long blood transfusions and removal of excessive iron from the blood stre...

Journal: :Blood 1973
G Russo F Mollica L Pavone S Musumeci C Baglioni

A patient with thalassemia major is demembers of the same family who are also scribed in which two types of thalassemia HbC carriers. The genetic implications of genes are present. one that reduces 3-chain the interaction of these two thalassemia synthesis and the other that suppresses it genes are discussed in view of recent completely. The identification of these two theories on the nature of...

2010
Jin-Ai Mary Anne Tan Ping-Chin Lee Yong-Chui Wee Kim-Lian Tan Noor Fadzlin Mahali Elizabeth George Kek-Heng Chua

Thalassemia can lead to severe transfusion-dependent anemia, and it is the most common genetic disorder in Malaysia. This paper aims to determine the prevalence of thalassemia in the Kadazandusuns, the largest indigenous group in Sabah, East Malaysia. α- and β-thalassemia were confirmed in 33.6% and 12.8%, of the individuals studied respectively. The high prevalence of α- and β-thalassemia in t...

Journal: :Thalassemia Reports 2023

Beta thalassemia is an inherited disorder resulting in abnormal or decreased production of hemoglobin, leading to hemolysis and chronic anemia. The long-term complications can affect multiple organ systems, namely the liver, heart, endocrine. Myocardial iron overload a common finding β-thalassemia. As result, different cardiovascular form cardiomyopathy, pulmonary hypertension, arrhythmias, vas...

2014
Bing Li Xiao-zhuang Zhang Ai-hua Yin Qing-guo Zhao Li Wu Yuan-zhu Ma Ming-yong Luo Shou-yi Yu

BACKGROUND The objectives of this study were to estimate the prevalence of thalassemia and to analyze the need for public health services for migrant populations in different cities in Guangdong Province, China. METHODS A cross-sectional survey was conducted in 21 cities of Guangdong Province. Twenty-three types of a- and β-globin gene mutations were detected in a total of 14,230 pregnant wom...

2014
Dun Liu Xinhua Zhang Lihua Yu Ren Cai Xiaoxia Ma Chengguang Zheng Yuqiu Zhou Qiji Liu Xiaofeng Wei Li Lin Tizhen Yan Jiwei Huang Narla Mohandas Xiuli An Xiangmin Xu

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). As increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. For this, we first studied the incidence of KLF1 mutations in two Chin...

2012
Tian Gao Yanli Nie Hua Hu Zhiqing Liang

BACKGROUND For patients with pregnancy-induced thalassemia, fetal cord blood or amniotic fluid is invasively collected in the traditional diagnosis and prediction of thalassemia. However, there is no specific molecular target in the diagnosis of thalassemia using fetal DNA from the plasma of pregnant women. MATERIAL/METHODS The promoter of cell surface adhesion molecule (IGSF4) gene was found...

Journal: :Turkish journal of haematology : official journal of Turkish Society of Haematology 2008
Hamdollah Karamifar Mehran Karimi Nargrs Sobhani

OBJECTIVE Growth retardation in children with b-thalassemia major is multifactorial. Some etiologies described for this condition are hemochromatosis, disturbed growth hormone (GH) / insulin growth factor-1 (IGF-1) axis, undernutrition and hypermetabolism. It has also been proven that growth retardation is present in b-thalassemia major children despite regular transfusion and chelation. Our ai...

Journal: :Blood 2014
Dun Liu Xinhua Zhang Lihua Yu Ren Cai Xiaoxia Ma Chengguang Zheng Yuqiu Zhou Qiji Liu Xiaofeng Wei Li Lin Tizhen Yan Jiwei Huang Narla Mohandas Xiuli An Xiangmin Xu

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2...

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