“Hemoglobin, alpha 2”的意思、由来-开放百科全书

Function

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 (α₂) and HBA1 (α₁) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions.

Protein

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 adult hemoglobin.

Clinical significance

References

1. ^{{cite journal | vauthors = Liebhaber SA, Goossens MJ, Kan YW | title = Cloning and complete nucleotide sequence of human 5'-alpha-globin gene | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 77 | issue = 12 | pages = 7054–8 | date = Dec 1980 | pmid = 6452630 | pmc = 350439 | doi = 10.1073/pnas.77.12.7054 }}
2. ^{{cite journal | vauthors = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 | date = Apr 1989 | pmid = 2649166 | doi = | url = http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=2649166 }}
3. ^{{cite web | title = Entrez Gene: HBA2 hemoglobin, alpha 2 | url = https://www.ncbi.nlm.nih.gov/gene/3040 | accessdate = }}

Further reading

{{cite journal | vauthors = Richter F, Meurers BH, Zhu C, Medvedeva VP, Chesselet MF | title = Neurons express hemoglobin alpha- and beta-chains in rat and human brains | journal = The Journal of Comparative Neurology | volume = 515 | issue = 5 | pages = 538–47 | date = Aug 2009 | pmid = 19479992 | pmc = 3123135 | doi = 10.1002/cne.22062 }}

{{cite journal | vauthors = Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL | title = A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)) | journal = Blood Cells, Molecules & Diseases | volume = 45 | issue = 2 | pages = 133–5 | date = Aug 2010 | pmid = 20682466 | doi = 10.1016/j.bcmd.2010.05.004 }}

{{cite journal | vauthors = Sessa R, Puzone S, Ammirabile M, Piscopo C, Pagano L, Colucci S, Izzo P, Grosso M | title = Identification and molecular characterization of the --CAMPANIA deletion, a novel alpha (0) -thalassemic defect, in two unrelated Italian families [corrected] | journal = American Journal of Hematology | volume = 85 | issue = 2 | pages = 143–4 | date = Feb 2010 | pmid = 20054848 | doi = 10.1002/ajh.21591 }}

{{cite journal | vauthors = Yin XL, Zhang XH, Zhou TH, Zhang TL, Luo RG, Wang L, Zhou YL, Chen YS, Kong XJ, Liang B, He YY, Peng L, Lu LB, Fang SP, Wu ZK | title = Hemoglobin H disease in Guangxi province, Southern China: clinical review of 357 patients | journal = Acta Haematologica | volume = 124 | issue = 2 | pages = 86–91 | year = 2010 | pmid = 20639625 | doi = 10.1159/000314058 }}

{{cite journal | vauthors = Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A | title = Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met] | journal = Hemoglobin | volume = 33 | issue = 3 | pages = 196–205 | year = 2009 | pmid = 19657833 | doi = 10.1080/03630260903058685 }}

{{cite journal | vauthors = Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, van Delft P, Arkesteijn SG, Phylipsen M, Giordano PC | title = alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene | journal = European Journal of Haematology | volume = 84 | issue = 4 | pages = 354–8 | date = Apr 2010 | pmid = 19912309 | doi = 10.1111/j.1600-0609.2009.01380.x }}

{{cite journal | vauthors = Kapralov A, Vlasova II, Feng W, Maeda A, Walson K, Tyurin VA, Huang Z, Aneja RK, Carcillo J, Bayir H, Kagan VE | title = Peroxidase activity of hemoglobin-haptoglobin complexes: covalent aggregation and oxidative stress in plasma and macrophages | journal = The Journal of Biological Chemistry | volume = 284 | issue = 44 | pages = 30395–407 | date = Oct 2009 | pmid = 19740759 | pmc = 2781594 | doi = 10.1074/jbc.M109.045567 }}

{{cite journal | vauthors = Roy P, Bhattacharya G, Banerjee D, Chandra S, Ghosh M, Choudhuri U, Das M, Dasgupta UB | title = Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent | journal = Hemoglobin | volume = 33 | issue = 6 | pages = 486–91 | year = 2009 | pmid = 19958194 | doi = 10.3109/03630260903336164 }}

{{cite journal | vauthors = Giardina B, Messana I, Scatena R, Castagnola M | title = The multiple functions of hemoglobin | journal = Critical Reviews in Biochemistry and Molecular Biology | volume = 30 | issue = 3 | pages = 165–96 | year = 1995 | pmid = 7555018 | doi = 10.3109/10409239509085142 }}

{{cite journal | vauthors = Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ | title = A review of the molecular genetics of the human alpha-globin gene cluster | journal = Blood | volume = 73 | issue = 5 | pages = 1081–104 | date = Apr 1989 | pmid = 2649166 | doi = }}

{{cite journal | vauthors = Ribeiro DM, Sonati MF | title = Regulation of human alpha-globin gene expression and alpha-thalassemia | journal = Genetics and Molecular Research | volume = 7 | issue = 4 | pages = 1045–53 | year = 2008 | pmid = 19048483 | doi = 10.4238/vol7-4gmr472 }}

{{cite journal | vauthors = Waye JS, Eng B, Dutly F, Frischknecht H | title = alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T) | journal = Hemoglobin | volume = 33 | issue = 6 | pages = 519–22 | year = 2009 | pmid = 19958200 | doi = 10.3109/03630260903333377 }}

{{cite journal | vauthors = Coelho A, Picanço I, Seuanes F, Seixas MT, Faustino P | title = Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment | journal = Blood Cells, Molecules & Diseases | volume = 45 | issue = 2 | pages = 147–53 | date = Aug 2010 | pmid = 20580289 | doi = 10.1016/j.bcmd.2010.05.010 }}

{{cite journal | vauthors = Sharma V, Kumar B, Kumar G, Saxena R | title = Alpha globin gene numbers: an important modifier of HbE/beta thalassemia | journal = Hematology | volume = 14 | issue = 5 | pages = 297–300 | date = Oct 2009 | pmid = 19843387 | doi = 10.1179/102453309X446126 }}

{{cite journal | vauthors = Turbpaiboon C, Wilairat P | title = Alpha-hemoglobin stabilizing protein: molecular function and clinical correlation | journal = Frontiers in Bioscience | volume = 15 | issue = | pages = 1–11 | year = 2010 | pmid = 20036801 | doi = 10.2741/3601 }}

{{cite journal | vauthors = Voon HP, Vadolas J | title = Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia | journal = Haematologica | volume = 93 | issue = 12 | pages = 1868–76 | date = Dec 2008 | pmid = 18768527 | doi = 10.3324/haematol.13490 }}

{{cite journal | vauthors = Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL | title = Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening | journal = Hemoglobin | volume = 34 | issue = 4 | pages = 354–65 | year = 2010 | pmid = 20642333 | doi = 10.3109/03630269.2010.486341 }}

{{cite journal | vauthors = Mahdavi MR, Kowsarian M, Karami H, Mohseni A, Vahidshahi K, Roshan P, Hojjati MT, Ebrahimzadeh MA | title = Prevalence of hemoglobin alpha-chain gene deletion in neonates in North of Iran | journal = European Review for Medical and Pharmacological Sciences | volume = 14 | issue = 10 | pages = 871–5 | date = Oct 2010 | pmid = 21222374 | doi = }}

{{cite journal | vauthors = Balakrishnan G, Zhao X, Podstawska E, Proniewicz LM, Kincaid JR, Spiro TG | title = Subunit-selective interrogation of CO recombination in carbonmonoxy hemoglobin by isotope-edited time-resolved resonance Raman spectroscopy | journal = Biochemistry | volume = 48 | issue = 14 | pages = 3120–6 | date = Apr 2009 | pmid = 19245215 | pmc = 2722936 | doi = 10.1021/bi802190f }}

{{cite journal | vauthors = Zhu C, Yu W, Xie J, Chen L, Ding H, Shang X, Xu X | title = Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy | journal = Blood Cells, Molecules & Diseases | volume = 45 | issue = 3 | pages = 223–6 | date = Oct 2010 | pmid = 20691621 | doi = 10.1016/j.bcmd.2010.07.005 }}

Function

Protein

Clinical significance

References

Further reading

External links