使用高性能液体染色体及其临床分析识别状细胞疾病及其相关的血红蛋白其他结构变异
Dhirendra Kumar1, Lokeswara Bala Krishna S2, Sridevi Parikipandla3
1Department of Biotechnology, Indira Gandhi National Tribal University, Amarkantak, India.
Hemoglobin
|January 28, 2026
概括
在印度,状细胞疾病 (SCD) 查发现了常见的Hb变体,如HbSS,HbSF和HbAS. 临床分析显示,结合HbS和其他血红蛋白病变的严重程度增加,特别是在21-30岁的女性中.
科学领域:
- 血液学 血液学 血液学
- 医学遗传学 医学遗传学
- 人口健康 人口健康
背景情况:
- 状细胞病 (SCD) 是一种普遍的遗传性血液疾病,由血红蛋白突变引起.
- SCD不成比例地影响着部落人口,在印度的Madhya Pradesh有着显著的存在.
- 了解与SCD相关的血红蛋白病变的谱系对于有效的管理至关重要.
研究的目的:
- 识别和描述与SCD相关的血红蛋白病变,重点关注α和β-globin结构变异.
- 为了将血红蛋白变异与印度队列中的临床严重性和人口因素相关联.
- 评估综合血红蛋白病查和临床分析在SCD管理中的有用性.
主要方法:
- 对超过1200名有症状的个人进行SCD的查.
- 使用溶解性测试,全血细胞计 (CBC),性电泳和高性能液体染色学 (HPLC) 进行样本分析.
- 详细的临床分析和对已识别的血红蛋白变异进行比较分析.
主要成果:
- 在阳性样本中确定了HbSS (21.26%),HbSF (11.39%) 和HbAS (63.73%) 的高频率.
- 检测到其他重要的变体包括HbJ,Hb D-Punjab和Hb Lepore.
- 在HPLC分析中,发现了许多β-变体 (99),α-变体 (115),四重体 (12),以及δβ-混合Hb变体 (8). 结合HbS和其他血红蛋白病变的严重程度增加,在21-30岁的女性中患病率更高.
结论:
- 包括电泳和HPLC在内的综合血红蛋白病查有效地识别了SCD患者的各种Hb变体.
- 临床分析与遗传分析一起,为疾病严重程度和患者分层提供了关键的见解.
- 这些发现强调了针对性查计划在印度部落等高流行地区的重要性,以更好地照顾SCD患者.
更多相关视频
10:37Deep Proteome Profiling by Isobaric Labeling, Extensive Liquid Chromatography, Mass Spectrometry, and Software-assisted Quantification
Published on: November 15, 2017
12.7K
07:34Large Scale Non-targeted Metabolomic Profiling of Serum by Ultra Performance Liquid Chromatography-Mass Spectrometry UPLC-MS
Published on: March 14, 2013
13.4K
相关概念视频
01:11High-Performance Liquid Chromatography: Introduction
3.5K
High-performance liquid chromatography(HPLC), formerly referred to as High-pressure liquid chromatography, is a powerful technique used to separate, identify, and quantify components in complex mixtures. The term "high pressure" refers to using high pressure to push the liquid mobile phase through the tightly packed columns.
In HPLC, two phases play a critical role in the separation process:
In HPLC, two phases play a critical role in the separation process:
3.5K
00:57High-Performance Liquid Chromatography: Instrumentation
3.0K
High-performance liquid chromatography, or HPLC, is an analytical technique that separates liquid samples under high pressures. An HPLC instrument consists of glass bottles for storing solvents called mobile phase reservoirs. HPLC-grade solvents are used to maintain high purity, and the dissolved gases are removed using a degasser, such as a vacuum pumping system or sparging with helium. The solvents are then pumped into the analytical column using a screw-driven syringe or reciprocating pumps.
3.0K
01:05High-Performance Liquid Chromatography: Elution Process
1.5K
In High-Performance Liquid Chromatography (HPLC), the elution process is critical to the separation of analytes and the quality of chromatographic results. Elution describes how compounds move through the column and separate based on their interactions with the mobile and stationary phases. This process determines the resolution, peak shape, and retention times in the chromatogram, which are essential for identifying and quantifying components in complex mixtures. Understanding the elution...
1.5K
01:15High-Performance Liquid Chromatography: Types of Detectors
1.7K
The role of the detectors in High-Performance Liquid Chromatography (HPLC) is to analyze the solutes as they exit from the chromatographic column. The detector recognizes the solute's property and generates corresponding electrical signals, which are converted into a readable graph of the detector's response versus elution time called a chromatogram at the computer. There are several types of HPLC detectors, each with its own advantages and limitations, depending on the analyte...
1.7K
01:24Hemoglobin
8.3K
Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
8.3K
02:30Histone Variants at the Centromere
5.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.0K