JoVE - Journal of Visualized Experiments
JoVE Visualize
Contact Us
这页已由机器翻译。其他页面可能仍然显示为英文。 View in English

泰拉塞米亚

  • 0Division of Paediatric Haematology-Oncology, First Department of Paediatrics, National and Kapodistrian University of Athens, Athens, Greece.
Lancet +

|

2022年六月12日

在PubMed上查看摘要

概括

此摘要是机器生成的。

相关概念视频

Disorders of Erythrocytes 01:27

1.2K

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...

Multiple Allele Traits 01:49

34.8K

The Concept of Multiple Allelism

Multiple allelism describes genes that exist in three or more allelic forms. Although diploid organisms, like humans, normally possess only two alleles of each gene, there are multiple alleles of many (if not most) human genes present in a population. Blood type is one example of multiple allelism. There are three alleles for blood type (HBB gene) in humans: IA, IB, and i.

Incomplete Dominance

Sickle cell anemia, which is caused by a mutation in the gene...

Translation 01:31

143.2K

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...

Inborn Errors of Metabolism 01:20

239

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Hypoxia 01:23

1.2K

Hypoxia is a medical condition characterized by an inadequate oxygen supply to body tissues. It typically manifests as a bluish discoloration of the skin and mucosae, especially in fair-skinned individuals, when hemoglobin (Hb) saturation drops below 75%.
Types of Hypoxia
There are four primary types of hypoxia, each resulting from a different cause:
1. Anemic hypoxia: This type occurs due to insufficient oxygen delivery caused by a lack of red blood cells (RBCs) or RBCs with abnormal or...

The Periodic Table and Organismal Elements 00:57

184.9K

Overview

Elements are the smallest units of matter that cannot be broken down further by chemical processes. There are 118 known elements, but not all of these are naturally-occurring, and fewer still are essential for life. Living matter is composed primarily of carbon, nitrogen, hydrogen, and oxygen, with smaller amounts of other elements like calcium, phosphorus, potassium, and sulfur. Other elements are also necessary for life but only in trace amounts.

The Periodic Table Provides...