全部文献期刊会议图书|学者科研项目
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作者:Sheng He , Jihui Li , Peng Huang ...
来源:[J].Hemoglobin(IF 0.894), 2018, Vol.42 (1), pp.61-64
摘要:Abstract(#br)Hb Bart’s hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (– –/– –). H...
作者:Bayram Bayramov , Gunay Aliyeva , Chingiz Asadov ...
来源:[J].Hemoglobin(IF 0.894), 2019, Vol.43 (4-5), pp.280-282
摘要:Abstract(#br)We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (–T) ( HBB : c.9delT) was relevant to β0-thal. Additionally, we here report two new mutations on the HB...
作者:Ibrahim H. Bucak , Habip Almis , Samet Benli ...
来源:[J].Hemoglobin(IF 0.894), 2017, Vol.41 (2), pp.120-123
摘要:Abstract(#br)Patients with β-thalassemia major (β-TM), a disease that emerges due to disorder of hemoglobin (Hb) synthesis, require life-long erythrocyte transfusion. The purpose of this study was to evaluate skin color and iron levels of patients with β-TM using a visual sk...
作者:Rim Belhaj Nefissi , Radhouene Doggui , Faida Ouali ...
来源:[J].Hemoglobin(IF 0.894), 2018, Vol.42 (2), pp.96-102
摘要:Abstract(#br)Sickle cell disease is a genetic disorder characterized by a hypercoagulable state. Several complications in this hemoglobinopathy are increased by thrombosis. Factor V Leiden (FVL), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677...
作者:Kamal A. Kadhim , Kadhim H. Baldawi , Faris H. Lami
来源:[J].Hemoglobin(IF 0.894), 2017, Vol.41 (3), pp.164-168
摘要:Abstract(#br)Globally, thalassemia is the most common hereditary hemoglobinopathy, and occurs in 4.4/10,000 live births. In the developing world, the majority of patients die before the age of 20 years. In Iraq, there is little data on the epidemiology and burden of thalasse...
作者:Jiaodi Liu , Yumei Huang , Yu Lei ...
来源:[J].Hemoglobin(IF 0.894), 2017, Vol.41 (2), pp.134-136
摘要:Abstract(#br)Hb Southampton [β106(G8)Leu→Pro; HBB : c.320T>C] is a rare, unstable hemoglobin (Hb), variant. The main clinical presentation of this variant is hemolytic anemia. We detected this mutation in a 2-year-old Chinese girl with a history of regular transfusions. To t...
作者:Marc N. Bienz , Cyrus Hsia , John S. Waye ...
来源:[J].Hemoglobin(IF 0.894), 2019, Vol.43 (2), pp.129-131
摘要:Abstract(#br)We present the case of a novel β-globin gene variant associated with early-onset transfusion-dependent anemia compatible with a β-thalassemia major (β-TM) phenotype in a patient of British descent. As a child, our patient developed chronic symptomatic anemia wit...
作者:Faten Moassas , Ayman Alabloog , Hossam Murad
来源:[J].Hemoglobin(IF 0.894), 2018, Vol.42 (3), pp.203-205
摘要:Abstract(#br)We present the description of a β-thalassemia (β-thal) –86 (C>G) ( HBB : c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a ...

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