更新于：2024-11-01

Congenital Atransferrinemia

先天性无转铁蛋白血症

更新于：2024-11-01

基本信息

别名

ATRANSFERRINEMIA、Atransferrinaemia (hereditary)、Atransferrinemia

+ [17]

简介

An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis.

关联

项与先天性无转铁蛋白血症相关的药物

Human apotransferrin(Prothya Biosolutions)

靶点

TFR2 x TfR1

作用机制

TFR2激动剂 [+1]

在研机构

Prothya Biosolutions Netherlands B.V.

原研机构

Prothya Biosolutions Netherlands B.V.

在研适应症

先天性无转铁蛋白血症

非在研适应症

β地中海贫血

最高研发阶段临床2/3期

首次获批国家/地区-

首次获批日期1800-01-20

项与先天性无转铁蛋白血症相关的临床试验

EUCTR2009-017409-13-DE / Not yet recruiting临床2期

Dose escalating study to evaluate pharmacokinetics, efficacy and safety of apotransferrin in atransferrinemia patients - Apotransferrin replacement in atransferrinemia

开始日期2011-05-25

申办/合作机构

Prothya Biosolutions Netherlands B.V.

NCT01797055 / Active, not recruiting临床2/3期

Dose Escalating Study to Evaluate Pharmacokinetics, Efficacy and Safety of Apotransferrin in Atransferrinemia Patients

Atransferrinemia is a very rare disorder, which is caused by a deficiency of the protein transferrin. No regular treatment is available for these patients. The objective of this study is to investigate the pharmacokinetics, efficacy and safety of Apotransferrin replacement therapy in atransferrinemia patients.

开始日期2010-12-01

申办/合作机构

Prothya Biosolutions Netherlands B.V.

100 项与先天性无转铁蛋白血症相关的临床结果

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100 项与先天性无转铁蛋白血症相关的转化医学

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0 项与先天性无转铁蛋白血症相关的专利（医药）

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项与先天性无转铁蛋白血症相关的文献（医药）

2024-01-01·International Journal of Biological Macromolecules

Label-free and ultrasensitive electrochemical transferrin detection biosensor based on a glassy carbon electrode and gold nanoparticles

Article

作者: Ali, Syed Kashif ; Rabbani, Gulam ; Zakri, Waleed ; Bashiri, Abdullateef H ; Zamzami, Mazin A ; Khan, Anwar Ulla ; Ahmad, Abrar ; Khan, Mohammad Ehtisham

In this study, we developed a label-free and ultrasensitive electrochemical biosensor for the detection of transferrin (Tf), an important serum biomarker of atransferrinemia. The biosensor was fabricated by using glassy carbon electrode (GCE) and modified with gold nanoparticles (AuNPs) via electroless deposition. The electrochemical characteristics of the GCE-AuNPs biosensors were characterized using cyclic voltammetry and electrochemical impedance spectroscopy analysis. Differential pulse voltammetry was used for quantitative evaluation of the Tf-antigen by recording the increase in the anodic peak current of GCE-AuNPs biosensor. The GCE-AuNPs biosensor demonstrates superior sensing performance for Tf-antigen fortified in buffer, with a wide linear range of 0.1 to 5000 μg/mL and a limit of detection of 0.18 μg/mL. The studied GCE-AuNPs biosensor showed excellent sensitivity, selectivity, long-term storage stability and simple sensing steps without pretreatment of clinical samples. This GCE-AuNPs biosensor indicates great potential for developing a Tf detection platform, which would be helpful in the early diagnosis of atransferrinemia. The developed GCE-AuNPs biosensor holds great potential in biomedical research related to point of care for the early diagnosis and monitoring of diseases associated with aberrant serum transferrin levels. These findings suggest that the GCE-AuNPs biosensor has great potential for detecting other serum biomarkers.

2023-02-15·Biochemia medica

Reversible atransferrinemia in a patient with chronic enteropathy

作者: Puy, Hervé ; Manceau, Hana ; Peoc'h, Katell ; Raynor, Alexandre ; Bruneel, Arnaud ; Stefanescu, Carmen

Herein, we report the case of a 42-year-old woman, hospitalized in a French tertiary hospital for a relapse of a chronic enteropathy, who was found on admission to have no detectable serum transferrin. Surprisingly, she only exhibited mild anaemia. This atransferrinemia persisted for two months throughout her hospitalization, during which her haemoglobin concentration remained broadly stable. Based on her clinical history and evolution, we concluded to an acquired atransferrinemia secondary to chronic undernutrition, inflammation and liver failure. We discuss the investigations performed in this patient, and hypotheses regarding the relative stability of her haemoglobin concentration despite the absence of detectable transferrin.

2020-12-04·Hematology3区 · 教育学

Inherited microcytic anemias

3区 · 教育学

Review

作者: Cappellini, Maria Domenica ; Iolascon, Achille ; Andolfo, Immacolata ; Russo, Roberta

AbstractInherited microcytic anemias can be broadly classified into 3 subgroups: (1) defects in globin chains (hemoglobinopathies or thalassemias), (2) defects in heme synthesis, and (3) defects in iron availability or iron acquisition by the erythroid precursors. These conditions are characterized by a decreased availability of hemoglobin (Hb) components (globins, iron, and heme) that in turn causes a reduced Hb content in red cell precursors with subsequent delayed erythroid differentiation. Iron metabolism alterations remain central to the diagnosis of microcytic anemia, and, in general, the iron status has to be evaluated in cases of microcytosis. Besides the very common microcytic anemia due to acquired iron deficiency, a range of hereditary abnormalities that result in actual or functional iron deficiency are now being recognized. Atransferrinemia, DMT1 deficiency, ferroportin disease, and iron-refractory iron deficiency anemia are hereditary disorders due to iron metabolism abnormalities, some of which are associated with iron overload. Because causes of microcytosis other than iron deficiency should be considered, it is important to evaluate several other red blood cell and iron parameters in patients with a reduced mean corpuscular volume (MCV), including mean corpuscular hemoglobin, red blood cell distribution width, reticulocyte hemoglobin content, serum iron and serum ferritin levels, total iron-binding capacity, transferrin saturation, hemoglobin electrophoresis, and sometimes reticulocyte count. From the epidemiological perspective, hemoglobinopathies/thalassemias are the most common forms of hereditary microcytic anemia, ranging from inconsequential changes in MCV to severe anemia syndromes.