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Gene Review

HBA1  -  hemoglobin, alpha 1

Homo sapiens

Synonyms: HBA-T3, HBH
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Disease relevance of HBA1

  • The alpha-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5'-3') showing overall sequence homology >96% and average CG content >60%. alpha-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused by sequence variations of these genes in about 25% of carriers [1].
  • Mismatch between bone marrow transplant (BMT) patient and donor for an amino acid polymorphism within the adhesion molecule CD31 has recently been reported to increase risk for the development of graft-versus-host disease (GVHD) [2].
  • Kaposi sarcoma herpesvirus K5 removes CD31/PECAM from endothelial cells [3].
  • We found by CD31 immunostaining of ECs that in giant cell arteritis there are capillary blood vessels not only in the adventitia as in uninvolved temporal artery wall, but also in the media and the external zone of the thickened intima [4].
  • METHODS: Immunohistochemical staining of frozen tissue sections of postmortem eyes obtained from 30 persons without and 41 persons with diabetes mellitus was carried out with monoclonal antibodies against PAL-E and CD31 and with antibodies against endogenous fibrinogen, albumin and IgG as indicators of vascular leakage [5].

Psychiatry related information on HBA1

  • We used the Child Behavior Check List (CBCL) according to Achenbach, intelligence quotient (IQ) test according to Weiss, and monitoring of blood phenylalanine concentrations and HBA1 concentrations [6].

High impact information on HBA1

  • CD99 functioned distally to the point at which platelet-endothelial cell adhesion molecule 1 (PECAM-1, also known as CD31), another adhesion molecule involved in transmigration, played its critical role [7].
  • These results suggest that interaction of CD31 with a heterophilic counterreceptor on T lymphocytes can interfere with a positive regulatory pathway of T cell activation, or directly signal T cells to downregulate immune function [8].
  • Interaction of CD31 with a heterophilic counterreceptor involved in downregulation of human T cell responses [8].
  • K5 was transported to the cell surface and ubiquitinated pre-existing CD31, resulting in endocytosis and lysosomal degradation [3].
  • In the endoplasmic reticulum, newly synthesized CD31 was degraded by proteasomes, which required binding of phosphofurin acidic cluster sorting protein-2 (PACS-2) to acidic residues in the carboxyterminal tail of K5 [3].

Chemical compound and disease context of HBA1


Biological context of HBA1

  • Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events [13].
  • Assessments of angiogenesis (CD31), cell proliferation (proliferating cell nuclear antigen), and apoptosis (terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling) were done using immunohistochemical analysis [14].
  • Further, morphologic, phenotypic, and functional changes typical of plasma cell (PC) differentiation, including increase in light-chain secretion and expression of CD31, were observed and this was followed by apoptosis [15].
  • Elements of variation in the clinical course of CD38(+) CLL patients include (1) potential intersection with ZAP-70, a kinase involved in the CD38 signaling pathway in T and natural killer (NK) cells, and (2) the effects of genetic polymorphisms of the receptors involved, at least of CD38 and CD31 [16].
  • Fourth, evidence that nurselike cells express high levels of CD31 and plexin-B1, the high-affinity ligand for CD100, offers indirect confirmation for this model of receptor cross-talk [16].

Anatomical context of HBA1


Associations of HBA1 with chemical compounds

  • 12 subjects were classified as having controlled insulin-dependent diabetes (CIDD) with a mean blood glucose level of 6.7 mmol/l and a mean HBA1 level of 9.2% at baseline [22].
  • A small but significant increase in HBA1 levels occurred in the 50% of patients on the higher Doxazosin dose [23].
  • The synergistic interaction between ZD6126 and gefitinib was corroborated by a significant decrease in CD31 labelling [24].
  • CD31 (PECAM-1) is a member of the immunoglobulin gene superfamily (IgSF) and has an important role in a number of endothelial cell functions including angiogenesis, inflammation, integrin activation and cell-cell adhesion [25].
  • The addition of paclitaxel to the treatment with SU6668 significantly decreased the hemoglobin content and the number of CD31-positive vessels in Matrigel plugs in vivo [26].

Other interactions of HBA1

  • The HBA2 alleles c.1A>G, c.79G>A, and c.281T>G, and the HBA1 allele c.475C>A were new [1].
  • Gene symbol: HBA1. Disease: Haemoglobin alpha 1 [27].
  • The relationship between diabetic macroangiopathy or microangiopathy and apolipoprotein B (apoB) polymorphism was studied in 139 male and 129 female patients with non-insulin-dependent diabetes (NIDDM) mellitus, comprising consecutive patients with poor diabetic control (HBA1 13.2% +/- 2.7 (SD)) referred to our hospital [28].

Analytical, diagnostic and therapeutic context of HBA1

  • Material and methods: Immunohistochemical stainings were prepared in the 20 specimens with three antibodies [D2-40, CD31 and proliferating cell nuclear antigen (PCNA)] [18].
  • The vessel density (immunofluorescence staining with CD31 antibody at different time points) showed an excellent correlation with the calculated relative blood volume (k = 0.84, P < 0.01), thereby validating intermittent sonography as a useful monitoring method [29].
  • In this report, the co-expression of HLA-DR and the endothelial marker CD31 are used to identify RMEC as a distinct population of cells within a standard renal biopsy using flow cytometry [30].
  • Well-characterized antibodies against human alpha 6, beta 4, alpha 6 beta 4, laminin-5 and laminin-1, endothelial CD31, and vascular markers were measured with computerized video imaging and laser confocal microscopy [31].
  • Intratumoural microvasculature was highlighted immunohistochemically using an antibody against CD31 and subsequently evaluated at x 400 magnification in both biopsies and corresponding prostatectomies [32].


  1. Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Lacerra, G., Fiorito, M., Musollino, G., Di Noce, F., Esposito, M., Nigro, V., Gaudiano, C., Carestia, C. Hum. Mutat. (2004) [Pubmed]
  2. Polymorphism of adhesion molecule CD31 is not a significant risk factor for graft-versus-host disease. Nichols, W.C., Antin, J.H., Lunetta, K.L., Terry, V.H., Hertel, C.E., Wheatley, M.A., Arnold, N.D., Siemieniak, D.R., Boehnke, M., Ginsburg, D. Blood (1996) [Pubmed]
  3. Kaposi sarcoma herpesvirus K5 removes CD31/PECAM from endothelial cells. Mansouri, M., Douglas, J., Rose, P.P., Gouveia, K., Thomas, G., Means, R.E., Moses, A.V., Früh, K. Blood (2006) [Pubmed]
  4. Decorin is produced by capillary endothelial cells in inflammation-associated angiogenesis. Nelimarkka, L., Salminen, H., Kuopio, T., Nikkari, S., Ekfors, T., Laine, J., Pelliniemi, L., Järveläinen, H. Am. J. Pathol. (2001) [Pubmed]
  5. Increased expression of endothelial antigen PAL-E in human diabetic retinopathy correlates with microvascular leakage. Schlingemann, R.O., Hofman, P., Vrensen, G.F., Blaauwgeers, H.G. Diabetologia (1999) [Pubmed]
  6. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. Weglage, J., Grenzebach, M., Pietsch, M., Feldmann, R., Linnenbank, R., Denecke, J., Koch, H.G. J. Inherit. Metab. Dis. (2000) [Pubmed]
  7. CD99 plays a major role in the migration of monocytes through endothelial junctions. Schenkel, A.R., Mamdouh, Z., Chen, X., Liebman, R.M., Muller, W.A. Nat. Immunol. (2002) [Pubmed]
  8. Interaction of CD31 with a heterophilic counterreceptor involved in downregulation of human T cell responses. Prager, E., Sunder-Plassmann, R., Hansmann, C., Koch, C., Holter, W., Knapp, W., Stockinger, H. J. Exp. Med. (1996) [Pubmed]
  9. Thymidine phosphorylase expression in normal, hyperplastic and neoplastic prostates: correlation with tumour associated macrophages, infiltrating lymphocytes, and angiogenesis. Sivridis, E., Giatromanolaki, A., Papadopoulos, I., Gatter, K.C., Harris, A.L., Koukourakis, M.I. Br. J. Cancer (2002) [Pubmed]
  10. Tumor blood vessels formation in osteosarcoma: vasculogenesis mimicry. Cai, X.S., Jia, Y.W., Mei, J., Tang, R.Y. Chin. Med. J. (2004) [Pubmed]
  11. Benign cystic mesothelioma of peritoneum: a case report. Cusatelli, P., Altavilla, G., Marchetti, M. Eur. J. Gynaecol. Oncol. (1997) [Pubmed]
  12. Neovascularization and mast cells with tryptase activity increase simultaneously with pathologic progression in human endometrial cancer. Ribatti, D., Finato, N., Crivellato, E., Marzullo, A., Mangieri, D., Nico, B., Vacca, A., Beltrami, C.A. Am. J. Obstet. Gynecol. (2005) [Pubmed]
  13. Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Law, H.Y., Luo, H.Y., Wang, W., Ho, J.F., Najmabadi, H., Ng, I.S., Steinberg, M.H., Chui, D.H., Chong, S.S. Haematologica (2006) [Pubmed]
  14. Focal adhesion kinase targeting using in vivo short interfering RNA delivery in neutral liposomes for ovarian carcinoma therapy. Halder, J., Kamat, A.A., Landen, C.N., Han, L.Y., Lutgendorf, S.K., Lin, Y.G., Merritt, W.M., Jennings, N.B., Chavez-Reyes, A., Coleman, R.L., Gershenson, D.M., Schmandt, R., Cole, S.W., Lopez-Berestein, G., Sood, A.K. Clin. Cancer Res. (2006) [Pubmed]
  15. Inhibition of fibroblast growth factor receptor 3 induces differentiation and apoptosis in t(4;14) myeloma. Trudel, S., Ely, S., Farooqi, Y., Affer, M., Robbiani, D.F., Chesi, M., Bergsagel, P.L. Blood (2004) [Pubmed]
  16. In-tandem insight from basic science combined with clinical research: CD38 as both marker and key component of the pathogenetic network underlying chronic lymphocytic leukemia. Deaglio, S., Vaisitti, T., Aydin, S., Ferrero, E., Malavasi, F. Blood (2006) [Pubmed]
  17. Polymorphonuclear neutrophils adherence, superoxide anion (O2-) production and HBA1 level in diabetic patients. Wierusz-Wysocka, B., Wykretowicz, A., Byks, H., Sadurska, K., Wysocki, H. Diabetes Res. Clin. Pract. (1993) [Pubmed]
  18. Histomorphometrical study in cavernous lymphangioma of the tongue. Yaita, T., Onodera, K., Xu, H., Ooya, K. Oral diseases (2007) [Pubmed]
  19. Inhibitory effect of thalidomide on the growth, secretory function and angiogenesis of estrogen-induced prolactinoma in Fischer 344 rats. Stepień, H., Lawnicka, H., Mucha, S., Wagrowska-Danilewicz, M., Stepień, B., Siejka, A., Komorowski, J. Life Sci. (2006) [Pubmed]
  20. Expression of vascular endothelial growth factor and angiogenesis in patellar tendon grafts in the early phase after anterior cruciate ligament reconstruction. Yoshikawa, T., Tohyama, H., Enomoto, H., Matsumoto, H., Toyama, Y., Yasuda, K. Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA. (2006) [Pubmed]
  21. Transmigration of CD34+ cells across specialized and nonspecialized endothelium requires prior activation by growth factors and is mediated by PECAM-1 (CD31). Yong, K.L., Watts, M., Shaun Thomas, N., Sullivan, A., Ings, S., Linch, D.C. Blood (1998) [Pubmed]
  22. A longitudinal study on insulin-dependent diabetes mellitus and periodontal disease. Seppälä, B., Seppälä, M., Ainamo, J. Journal of clinical periodontology. (1993) [Pubmed]
  23. Doxazosin in the management of hypertensive diabetes--a cautionary note (?). McLaughlin, B., Daly, L., Devlin, J.G. Irish journal of medical science. (1992) [Pubmed]
  24. Enhanced tumour antiangiogenic effects when combining gefitinib with the antivascular agent ZD6126. Bozec, A., Lassalle, S., Gugenheim, J., Fischel, J.L., Formento, P., Hofman, P., Milano, G. Br. J. Cancer (2006) [Pubmed]
  25. Identification of alpha v beta 3 as a heterotypic ligand for CD31/PECAM-1. Buckley, C.D., Doyonnas, R., Newton, J.P., Blystone, S.D., Brown, E.J., Watt, S.M., Simmons, D.L. J. Cell. Sci. (1996) [Pubmed]
  26. The vascular targeting property of paclitaxel is enhanced by SU6668, a receptor tyrosine kinase inhibitor, causing apoptosis of endothelial cells and inhibition of angiogenesis. Naumova, E., Ubezio, P., Garofalo, A., Borsotti, P., Cassis, L., Riccardi, E., Scanziani, E., Eccles, S.A., Bani, M.R., Giavazzi, R. Clin. Cancer Res. (2006) [Pubmed]
  27. Gene symbol: HBA1. Disease: Haemoglobin alpha 1. Vazão, H., Bento, C., Ribeiro, L. Hum. Genet. (2005) [Pubmed]
  28. Apolipoprotein B gene DNA polymorphisms are associated with macro- and microangiopathy in non-insulin-dependent diabetes mellitus. Ukkola, O., Savolainen, M.J., Salmela, P.I., von Dickhoff, K., Kesäniemi, Y.A. Clin. Genet. (1993) [Pubmed]
  29. Sensitive noninvasive monitoring of tumor perfusion during antiangiogenic therapy by intermittent bolus-contrast power Doppler sonography. Krix, M., Kiessling, F., Vosseler, S., Farhan, N., Mueller, M.M., Bohlen, P., Fusenig, N.E., Delorme, S. Cancer Res. (2003) [Pubmed]
  30. Normal human kidney HLA-DR-expressing renal microvascular endothelial cells: characterization, isolation, and regulation of MHC class II expression. Muczynski, K.A., Ekle, D.M., Coder, D.M., Anderson, S.K. J. Am. Soc. Nephrol. (2003) [Pubmed]
  31. Rapid disruption of an astrocyte interaction with the extracellular matrix mediated by integrin alpha 6 beta 4 during focal cerebral ischemia/reperfusion. Wagner, S., Tagaya, M., Koziol, J.A., Quaranta, V., del Zoppo, G.J. Stroke (1997) [Pubmed]
  32. Microvessel density in core biopsies of prostatic adenocarcinoma: a stage predictor? Rogatsch, H., Hittmair, A., Reissigl, A., Mikuz, G., Feichtinger, H. J. Pathol. (1997) [Pubmed]
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