2024年12月25日 · HBA1 (Hemoglobin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include Hemoglobin H Disease and Heinz Body Anemias. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Cellular responses to stimuli.

Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α2β2, is the most common human hemoglobin tetramer, accounting for over 97% of the total red blood cell hemoglobin. [1] . Hemoglobin is an oxygen-binding protein, found in erythrocytes, which transports oxygen from the lungs to the tissues. [2] .

2025年3月8日 · Gene target information for HBA1 - hemoglobin subunit alpha 1 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Hemoglobin subunit alpha, Hemoglobin, alpha 1, [5] is a hemoglobin protein that in humans is encoded by the HBA1 gene. [6] The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'.

血红蛋白A1 （英語： Hemoglobin, alpha 1，缩写 HBA1）是人类由 HBA1 基因编码的血红蛋白蛋白。 [6] 其基因位于16号染色体上的人α珠蛋白基因簇，长度约30kb，并且包括7个基因座：5'-ζ-伪ζ-mu-拟α-1-α-2-α-1-θ-3'。 α-2（HBA2）和α-1（HBA1;该基因）编码序列是相同的。 这些基因与5'非翻译区和内含子略有不同，但它们在3'非翻译区有显着差异。 [6] 两条α链加两条β链组成HbA，在正常的成年生活中它占总血红蛋白的约97％; α链与δ链结合构成HbA-2，其中HbF（ …

The HBA1 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA2. These two alpha-globin genes are located …

This gene has 4 transcripts (splice variants), 9 paralogues and is associated with 9 phenotypes.

Gene ID: 3039, updated on 8-Feb-2025. The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical.

2024年8月12日 · 本专题将讨论α珠蛋白基因 (HBA1 和 HBA2)检测结果的意义。 这些基因的致病性变异 (常为缺失)可导致α地中海贫血。 α珠蛋白基因检测不能识别β地中海贫血或其他累及β珠蛋白的疾病，如镰状细胞病。 检测指征和受检者的临床医疗详见UpToDate中的其他专题 [1]。 准确性 –确认检测机构是经临床实验室改进法案修正案认证的实验室或其他国家认证实验室 (表 1)。 基因型 –确定检测是否包括α珠蛋白基因测序或一系列变异。 某些实验室仅检测特定的常见变异， …

α (HBA) 和β (HBB) 位点决定了成人血红蛋白 Hb A 中两种多肽链的结构。 正常的成人血红蛋白四聚体由两条 α 链和两条 β 链组成。 突变的 β 珠蛋白会导致镰状细胞性贫血。 缺乏β链会导致β-零地中海贫血。 可检测到的 β 珠蛋白数量减少会导致 β 加地中海贫血。 β-珠蛋白簇中基因的顺序是 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'。 [RefSeq 提供，2008 年 7 月]