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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

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

Urianstad T, Villanova S, Odden I, Hansen J, Mølmen KS, Porcelli S, Rønnestad BR, Cardinale DA
J Appl Physiol (1985) 2024 Nov 1;137(5):1092-1105. Epub 2024 Sep 5 doi: 10.1152/japplphysiol.00469.2024. PMID: 39236115
Zamora-Saa M, Zamora-Saa J, Bacaloni A
G Ital Med Lav Ergon 2022 Sep;44(3):352-359. PMID: 36622823
Sun K, Zhang Y, D'Alessandro A, Nemkov T, Song A, Wu H, Liu H, Adebiyi M, Huang A, Wen YE, Bogdanov MV, Vila A, O'Brien J, Kellems RE, Dowhan W, Subudhi AW, Jameson-Van Houten S, Julian CG, Lovering AT, Safo M, Hansen KC, Roach RC, Xia Y
Nat Commun 2016 Jul 15;7:12086. doi: 10.1038/ncomms12086. PMID: 27417539Free PMC Article
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
Morpurgo G, Battaglia P, Carter ND, Modiano G, Passi S
Experientia 1972 Nov 15;28(11):1280-3. doi: 10.1007/BF01965295. PMID: 4638887

Diagnosis

Getu A
Biomed Res Int 2022;2022:5749382. Epub 2022 Apr 15 doi: 10.1155/2022/5749382. PMID: 35463974Free PMC Article
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
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
Mairbäurl H, Weber RE
Compr Physiol 2012 Apr;2(2):1463-89. doi: 10.1002/cphy.c080113. PMID: 23798307
Wagner PD
High Alt Med Biol 2010 Summer;11(2):111-9. doi: 10.1089/ham.2009.1084. PMID: 20586595Free PMC Article

Therapy

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
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
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
Mackenzie RW, Watt PW, Maxwell NS
High Alt Med Biol 2008 Spring;9(1):28-37. doi: 10.1089/ham.2007.1043. PMID: 18331218
Rivera-Ch M, Leon-Velarde F, Huicho L
Biol Res 1996;29(2):167-76. PMID: 9278706

Prognosis

Nybo L, Rønnestad B, Lundby C
Scand J Med Sci Sports 2024 Jan;34(1):e14268. Epub 2022 Dec 22 doi: 10.1111/sms.14268. PMID: 36350277
Yan Y, Mao Z, Jia Q, Zhao XJ, Yang SH
Am J Hum Biol 2023 Sep;35(9):e23913. Epub 2023 May 18 doi: 10.1002/ajhb.23913. PMID: 37200487
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
Wagner PD
High Alt Med Biol 2010 Summer;11(2):111-9. doi: 10.1089/ham.2009.1084. PMID: 20586595Free PMC Article
Schmidt W
High Alt Med Biol 2002 Summer;3(2):167-76. doi: 10.1089/15270290260131902. PMID: 12162861

Clinical prediction guides

Urianstad T, Villanova S, Odden I, Hansen J, Mølmen KS, Porcelli S, Rønnestad BR, Cardinale DA
J Appl Physiol (1985) 2024 Nov 1;137(5):1092-1105. Epub 2024 Sep 5 doi: 10.1152/japplphysiol.00469.2024. PMID: 39236115
Storz JF
Mol Biol Evol 2021 Jun 25;38(7):2677-2691. doi: 10.1093/molbev/msab064. PMID: 33751123Free PMC Article
Wilber RL, Pitsiladis YP
Int J Sports Physiol Perform 2012 Jun;7(2):92-102. doi: 10.1123/ijspp.7.2.92. PMID: 22634972
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
Adams WH, Graves IL, Pyakural S
Proc Soc Exp Biol Med 1975 Mar;148(3):701-5. doi: 10.3181/00379727-148-38613. PMID: 1129290

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