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] .

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'.

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.

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 …

HGNC Approved Gene Symbol: HBA1. Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38) : 16:176,680-177,522 (from NCBI) The alpha and beta loci determine the structure of the 2 types of polypeptide chains in the tetrameric adult hemoglobin, Hb A, alpha-2/beta-2.

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.

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

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， …

2024年8月16日 · HBH is a form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence. MISCELLANEOUS: Gives blood its red color. SIMILARITY: Belongs to the globin family.