2024年12月25日 · HBA2 (Hemoglobin Subunit Alpha 2) is a Protein Coding gene. Diseases associated with HBA2 include Hemoglobin H Disease and Alpha-Thalassemia. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and …

Hemoglobin, alpha 2[5] also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. [6][7] The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes and pseudogenes: 5'- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3'.

The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1. These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.

HbA2 , a tetramer of α- and δ-globin chains, provides a diagnostic clue to the presence of β-thalassaemia trait. This minor haemoglobin, which forms about 2-3% of the total, has no known physiological role, but has the interesting property of preventing polymerization of …

2025年2月9日 · Title: [Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations]. Hb H disease associated with compound heterozygosity for --[SEA] deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a …

血红蛋白亚基α2： 位于 16 号染色体上的人类 α 珠蛋白基因簇跨越约 30 kb，包括七个基因座：5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'。 alpha-2 (HBA2) 和 alpha-1 (HBA1) 编码序列是相同的。

Novel point mutation of the alpha2-globin gene (HBA2) and a rare 2.4 kb deletion of the alpha1-globin gene (HBA1), identified in two chinese patients with Hb H disease. In sickle cell anemia, levels of HbA2 appear to be modulated by trans-acting genes that affect HBG expression and perhaps also elements within the beta-globin gene cluster.

This is a mutation of the HBA2 gene (Cash et al., 1989). Aguinaga et al. (2000) found the same hemoglobin variant in a nonsmoking 49-year-old Caucasian male who presented with polycythemia (ECYT7; 617981). The authors stated that this was the first report of Hb Inkster associated with polycythemia in a patient with an otherwise unexplained ...

2024年12月10日 · Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of …

2016年9月14日 · The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1. These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.