由HFE基因中的C282Y/H63D突变引起的遗传性血色变异:一个病例报告
Dongdong Li1,2, Jinfeng Li1,2, Hongkun Zhang1,2
1Department of Infectious Diseases, First Affiliated Hospital of Bengbu Medical College, 233000 Bengbu, Anhui, China.
Heliyon
|April 1, 2024
概括
本案例研究详细介绍了一例罕见的中国男性遗传性血色素瘤 (HH) 病例. 早期诊断和定期的瘤手术治疗有效地管理了铁过载,改善了患者的治疗结果.
科学领域:
- 遗传学 是一个遗传学.
- 内部医学 内部医学
- 胃肠病学 胃肠病学
背景情况:
- 遗传性血液染色症 (HH) 是一种铁代谢遗传性疾病,通常与欧洲人群有关.
- HFE基因的突变是HH的常见原因,影响铁的调节.
- 经典的HH在亚洲人群中特别罕见,使得中国的病例不常见.
相关概念视频
Translation
141.9K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
141.9K
Genetic Lingo
102.7K
Overview
102.7K
Multiple Allele Traits
34.2K
The Concept of Multiple Allelism
34.2K
Sex-linked Disorders
102.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.1K
Cystic Fibrosis: Pathogenesis
229
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
229
Multipotency of Hematopoietic Stem Cells
3.1K
The hematopoietic stem cells or HSCs are multipotent, meaning they can differentiate and give rise to all blood and immune cells. HSCs are maintained in the quiescent stage until an external stimulus initiates their differentiation. The multipotent HSCs exist as two heterogeneous populations, long-term repopulating cells (LTRC) and short-term repopulating cells (STRC). The two HSC populations have different surface markers or receptors and are classified based on quiescence and long-term...
3.1K


