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Hemoglobin, high altitude adaptation(HALAH)

MedGen UID:
322997
•Concept ID:
C1836778
•
Finding
Synonym: HALAH
 
Gene (location): EGLN1 (1q42.2)
 
OMIM®: 609070

Definition

Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by Lorenzo et al., 2014). [from OMIM]

Professional guidelines

PubMed

Chronic mountain sickness in Chinese Han males who migrated to the Qinghai-Tibetan plateau: application and evaluation of diagnostic criteria for chronic mountain sickness.
Jiang C, Chen J, Liu F, Luo Y, Xu G, Shen HY, Gao Y, Gao W
BMC Public Health 2014 Jul 9;14:701. doi: 10.1186/1471-2458-14-701. PMID: 25007716Free PMC Article

Recent clinical studies

Etiology

High altitude underground mining. Acclimatization and possible toxicological risks.
Zamora-Saa M, Zamora-Saa J, Bacaloni A
G Ital Med Lav Ergon 2022 Sep;44(3):352-359. PMID: 36622823
Erythrocyte adaptive metabolic reprogramming under physiological and pathological hypoxia.
D'Alessandro A, Xia Y
Curr Opin Hematol 2020 May;27(3):155-162. doi: 10.1097/MOH.0000000000000574. PMID: 32141895Free PMC Article
Metabolic aspects of high-altitude adaptation in Tibetans.
Ge RL, Simonson TS, Gordeuk V, Prchal JT, McClain DA
Exp Physiol 2015 Nov;100(11):1247-55. Epub 2015 Jul 14 doi: 10.1113/EP085292. PMID: 26053282Free PMC Article
Endurance training at altitude.
Saunders PU, Pyne DB, Gore CJ
High Alt Med Biol 2009 Summer;10(2):135-48. doi: 10.1089/ham.2008.1092. PMID: 19519223
High altitude adaptation in Tibetans.
Wu T, Kayser B
High Alt Med Biol 2006 Fall;7(3):193-208. doi: 10.1089/ham.2006.7.193. PMID: 16978132

Diagnosis

Ethiopian Native Highlander's Adaptation to Chronic High-Altitude Hypoxia.
Getu A
Biomed Res Int 2022;2022:5749382. Epub 2022 Apr 15 doi: 10.1155/2022/5749382. PMID: 35463974Free PMC Article
Geographical ancestry affects normal hemoglobin values in high-altitude residents.
Mairbäurl H, Gassmann M, Muckenthaler MU
J Appl Physiol (1985) 2020 Dec 1;129(6):1451-1459. Epub 2020 Oct 1 doi: 10.1152/japplphysiol.00025.2020. PMID: 33002380
Metabolic aspects of high-altitude adaptation in Tibetans.
Ge RL, Simonson TS, Gordeuk V, Prchal JT, McClain DA
Exp Physiol 2015 Nov;100(11):1247-55. Epub 2015 Jul 14 doi: 10.1113/EP085292. PMID: 26053282Free PMC Article
Oxygen transport by hemoglobin.
Mairbäurl H, Weber RE
Compr Physiol 2012 Apr;2(2):1463-89. doi: 10.1002/cphy.c080113. PMID: 23798307
Operation Everest II.
Wagner PD
High Alt Med Biol 2010 Summer;11(2):111-9. doi: 10.1089/ham.2009.1084. PMID: 20586595Free PMC Article

Therapy

Cerebral Venous Thrombosis at High Altitude: Analysis of 28 Cases.
Hassan WU, Syed MJ, Alamgir W, Awan S, Bell SM, Majid A, Wasay M
Cerebrovasc Dis 2019;48(3-6):184-192. Epub 2019 Nov 27 doi: 10.1159/000504504. PMID: 31775151
"Live High-Train Low and High" Hypoxic Training Improves Team-Sport Performance.
Brocherie F, Millet GP, Hauser A, Steiner T, Rysman J, Wehrlin JP, Girard O
Med Sci Sports Exerc 2015 Oct;47(10):2140-9. doi: 10.1249/MSS.0000000000000630. PMID: 25668402
Altitude training and haemoglobin mass from the optimised carbon monoxide rebreathing method determined by a meta-analysis.
Gore CJ, Sharpe K, Garvican-Lewis LA, Saunders PU, Humberstone CE, Robertson EY, Wachsmuth NB, Clark SA, McLean BD, Friedmann-Bette B, Neya M, Pottgiesser T, Schumacher YO, Schmidt WF
Br J Sports Med 2013 Dec;47 Suppl 1(Suppl 1):i31-9. doi: 10.1136/bjsports-2013-092840. PMID: 24282204Free PMC Article
Analysis of high-altitude de-acclimatization syndrome after exposure to high altitudes: a cluster-randomized controlled trial.
He B, Wang J, Qian G, Hu M, Qu X, Wei Z, Li J, Chen Y, Chen H, Zhou Q, Wang G
PLoS One 2013;8(5):e62072. Epub 2013 May 1 doi: 10.1371/journal.pone.0062072. PMID: 23650508Free PMC Article
High-altitude exposure of three weeks duration increases lung diffusing capacity in humans.
Agostoni P, Swenson ER, Bussotti M, Revera M, Meriggi P, Faini A, Lombardi C, Bilo G, Giuliano A, Bonacina D, Modesti PA, Mancia G, Parati G; HIGHCARE Investigators
J Appl Physiol (1985) 2011 Jun;110(6):1564-71. Epub 2011 Mar 24 doi: 10.1152/japplphysiol.01167.2010. PMID: 21436463

Prognosis

Cerebral Venous Thrombosis at High Altitude: Analysis of 28 Cases.
Hassan WU, Syed MJ, Alamgir W, Awan S, Bell SM, Majid A, Wasay M
Cerebrovasc Dis 2019;48(3-6):184-192. Epub 2019 Nov 27 doi: 10.1159/000504504. PMID: 31775151
Altitude training and haemoglobin mass from the optimised carbon monoxide rebreathing method determined by a meta-analysis.
Gore CJ, Sharpe K, Garvican-Lewis LA, Saunders PU, Humberstone CE, Robertson EY, Wachsmuth NB, Clark SA, McLean BD, Friedmann-Bette B, Neya M, Pottgiesser T, Schumacher YO, Schmidt WF
Br J Sports Med 2013 Dec;47 Suppl 1(Suppl 1):i31-9. doi: 10.1136/bjsports-2013-092840. PMID: 24282204Free PMC Article
Operation Everest II.
Wagner PD
High Alt Med Biol 2010 Summer;11(2):111-9. doi: 10.1089/ham.2009.1084. PMID: 20586595Free PMC Article
Dose-response of altitude training: how much altitude is enough?
Levine BD, Stray-Gundersen J
Adv Exp Med Biol 2006;588:233-47. doi: 10.1007/978-0-387-34817-9_20. PMID: 17089893
Effects of intermittent exposure to high altitude on blood volume and erythropoietic activity.
Schmidt W
High Alt Med Biol 2002 Summer;3(2):167-76. doi: 10.1089/15270290260131902. PMID: 12162861

Clinical prediction guides

Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures.
Sharma V, Varshney R, Sethy NK
Hum Genomics 2022 Jul 15;16(1):21. doi: 10.1186/s40246-022-00395-y. PMID: 35841113Free PMC Article
Altitude acclimatization, hemoglobin-oxygen affinity, and circulatory oxygen transport in hypoxia.
Storz JF, Bautista NM
Mol Aspects Med 2022 Apr;84:101052. Epub 2021 Dec 5 doi: 10.1016/j.mam.2021.101052. PMID: 34879970Free PMC Article
High-Altitude Adaptation: Mechanistic Insights from Integrated Genomics and Physiology.
Storz JF
Mol Biol Evol 2021 Jun 25;38(7):2677-2691. doi: 10.1093/molbev/msab064. PMID: 33751123Free PMC Article
Kenyan and Ethiopian distance runners: what makes them so good?
Wilber RL, Pitsiladis YP
Int J Sports Physiol Perform 2012 Jun;7(2):92-102. doi: 10.1123/ijspp.7.2.92. PMID: 22634972
Sequencing of 50 human exomes reveals adaptation to high altitude.
Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, Pool JE, Xu X, Jiang H, Vinckenbosch N, Korneliussen TS, Zheng H, Liu T, He W, Li K, Luo R, Nie X, Wu H, Zhao M, Cao H, Zou J, Shan Y, Li S, Yang Q, Asan, Ni P, Tian G, Xu J, Liu X, Jiang T, Wu R, Zhou G, Tang M, Qin J, Wang T, Feng S, Li G, Huasang, Luosang J, Wang W, Chen F, Wang Y, Zheng X, Li Z, Bianba Z, Yang G, Wang X, Tang S, Gao G, Chen Y, Luo Z, Gusang L, Cao Z, Zhang Q, Ouyang W, Ren X, Liang H, Zheng H, Huang Y, Li J, Bolund L, Kristiansen K, Li Y, Zhang Y, Zhang X, Li R, Li S, Yang H, Nielsen R, Wang J, Wang J
Science 2010 Jul 2;329(5987):75-8. doi: 10.1126/science.1190371. PMID: 20595611Free PMC Article

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