- HBA1
Hemoglobin, alpha 1, also known as HBA1, is a human
gene encoding thehemoglobin protein.PBB_Summary
section_title =
summary_text = 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. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the totalhemoglobin ; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alphathalassemia s result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [cite web | title = Entrez Gene: HBA1 hemoglobin, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3039| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Turbpaiboon C, Svasti S, Sawangareetakul P, "et al." |title=Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect. |journal=Hemoglobin |volume=26 |issue= 1 |pages= 77–81 |year= 2002 |pmid= 11939517 |doi=
*cite journal | author=Yalçin A, Avcu F, Beyan C, "et al." |title=A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu] |journal=Hemoglobin |volume=18 |issue= 6 |pages= 433–5 |year= 1995 |pmid= 7713747 |doi=
*cite journal | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=
*cite journal | author=Higgs DR, Vickers MA, Wilkie AO, "et al." |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081–104 |year= 1989 |pmid= 2649166 |doi=
*cite journal | author=Schillirò G, Russo-Mancuso G, Dibenedetto SP, "et al." |title=Six rare hemoglobin variants found in Sicily. |journal=Hemoglobin |volume=15 |issue= 5 |pages= 431–7 |year= 1992 |pmid= 1802885 |doi=
*cite journal | author=Vafa M, Troye-Blomberg M, Anchang J, "et al." |title=Multiplicity of Plasmodium falciparum infection in asymptomatic children in Senegal: relation to transmission, age and erythrocyte variants. |journal=Malar. J. |volume=7 |issue= |pages= 17 |year= 2008 |pmid= 18215251 |doi= 10.1186/1475-2875-7-17
*cite journal | author=Datta P, Chakrabarty S, Chakrabarty A, Chakrabarti A |title=Membrane interactions of hemoglobin variants, HbA, HbE, HbF and globin subunits of HbA: effects of aminophospholipids and cholesterol. |journal=Biochim. Biophys. Acta |volume=1778 |issue= 1 |pages= 1–9 |year= 2008 |pmid= 17916326 |doi= 10.1016/j.bbamem.2007.08.019
*cite journal | author=Taylor JG, Ackah D, Cobb C, "et al." |title=Mutations and polymorphisms in hemoglobin genes and the risk of pulmonary hypertension and death in sickle cell disease. |journal=Am. J. Hematol. |volume=83 |issue= 1 |pages= 6–14 |year= 2008 |pmid= 17724704 |doi= 10.1002/ajh.21035
*cite journal | author=Sahu SC, Simplaceanu V, Gong Q, "et al." |title=Insights into the solution structure of human deoxyhemoglobin in the absence and presence of an allosteric effector. |journal=Biochemistry |volume=46 |issue= 35 |pages= 9973–80 |year= 2007 |pmid= 17691822 |doi= 10.1021/bi700935z
*cite journal | author=Sorour Y, Heppinstall S, Porter N, "et al." |title=Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme? |journal=Journal of medical screening |volume=14 |issue= 2 |pages= 60–1 |year= 2007 |pmid= 17626702 |doi= 10.1258/096914107781261981
*cite journal | author=Hung CC, Lee CN, Chen CP, "et al." |title=Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance liquid chromatography. |journal=Clin. Biochem. |volume=40 |issue= 11 |pages= 817–21 |year= 2007 |pmid= 17512924 |doi= 10.1016/j.clinbiochem.2007.03.018
*cite journal | author=Ye BC, Zhang Z, Lei Z |title=Molecular analysis of alpha/beta-thalassemia in a southern Chinese population. |journal=Genet. Test. |volume=11 |issue= 1 |pages= 75–83 |year= 2007 |pmid= 17394396 |doi= 10.1089/gte.2006.0502
*cite journal | author=Dilley J, Ganesan A, Deepa R, "et al." |title=Association of A1C with cardiovascular disease and metabolic syndrome in Asian Indians with normal glucose tolerance. |journal=Diabetes Care |volume=30 |issue= 6 |pages= 1527–32 |year= 2007 |pmid= 17351274 |doi= 10.2337/dc06-2414
*cite journal | author=Fonseka PV, Vasudevan G, Clarizia LJ, McDonald MJ |title=Temperature dependent soret spectral band shifts accompany human CN-mesohemoglobin assembly. |journal=Protein J. |volume=26 |issue= 4 |pages= 257–63 |year= 2007 |pmid= 17191128 |doi= 10.1007/s10930-006-9067-7
*cite journal | author=Sankar VH, Arya V, Tewari D, "et al." |title=Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India. |journal=J. Appl. Genet. |volume=47 |issue= 4 |pages= 391–5 |year= 2007 |pmid= 17132905 |doi=
*cite journal | author=Origa R, Sollaino MC, Giagu N, "et al." |title=Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes. |journal=Br. J. Haematol. |volume=136 |issue= 2 |pages= 326–32 |year= 2007 |pmid= 17129226 |doi= 10.1111/j.1365-2141.2006.06423.x
*cite journal | author=Hussein OA, Gefen Y, Zidan JM, "et al." |title=LDL oxidation is associated with increased blood hemoglobin A1c levels in diabetic patients. |journal=Clin. Chim. Acta |volume=377 |issue= 1-2 |pages= 114–8 |year= 2007 |pmid= 17070510 |doi= 10.1016/j.cca.2006.09.002
*cite journal | author=Pan W, Galkin O, Filobelo L, "et al." |title=Metastable mesoscopic clusters in solutions of sickle-cell hemoglobin. |journal=Biophys. J. |volume=92 |issue= 1 |pages= 267–77 |year= 2007 |pmid= 17040989 |doi= 10.1529/biophysj.106.094854
*cite journal | author=Pistrosch F, Koehler C, Wildbrett J, Hanefeld M |title=Relationship between diurnal glucose levels and HbA1c in type 2 diabetes. |journal=Horm. Metab. Res. |volume=38 |issue= 7 |pages= 455–9 |year= 2006 |pmid= 16933182 |doi= 10.1055/s-2006-947838
*cite journal | author=Chong YM, Tan JA, Zubaidah Z, "et al." |title=Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers. |journal=Med. J. Malaysia |volume=61 |issue= 2 |pages= 217–20 |year= 2006 |pmid= 16898315 |doi=PBB_Controls
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