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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

Yasukochi Y, Nishimura T, Ugarte J, Ohnishi M, Nishihara M, Alvarez G, Fukuda H, Mendoza V, Aoyagi K
Biomed Res Int 2020;2020:3436581. Epub 2020 Nov 15 doi: 10.1155/2020/3436581. PMID: 33282944Free PMC Article
Berrocal Y, Fisher J, Regan J, Christison AL
MedEdPORTAL 2018 Jun 26;14:10725. doi: 10.15766/mep_2374-8265.10725. PMID: 30800925Free PMC Article
Galvin HM, Cooke K, Sumners DP, Mileva KN, Bowtell JL
Br J Sports Med 2013 Dec;47 Suppl 1(Suppl 1):i74-9. doi: 10.1136/bjsports-2013-092826. PMID: 24282212Free PMC Article
Mackenzie RW, Watt PW, Maxwell NS
High Alt Med Biol 2008 Spring;9(1):28-37. doi: 10.1089/ham.2007.1043. PMID: 18331218
Farias JG, Osorio J, Soto G, Brito J, Siques P, Reyes JG
High Alt Med Biol 2006 Winter;7(4):302-6. doi: 10.1089/ham.2006.7.302. PMID: 17173515

Diagnosis

Linck EB, Williamson JL, Bautista E, Beckman EJ, Benham PM, DuBay SG, Flores LM, Gadek CR, Johnson AB, Jones MR, Núñez-Zapata J, Quiñonez A, Schmitt CJ, Susanibar D, Tiravanti C J, Verde-Guerra K, Wright NA, Valqui T, Storz JF, Witt CC
Am Nat 2023 May;201(5):741-754. Epub 2023 Mar 21 doi: 10.1086/723222. PMID: 37130238
Getu A
Biomed Res Int 2022;2022:5749382. Epub 2022 Apr 15 doi: 10.1155/2022/5749382. PMID: 35463974Free PMC Article
Berrocal Y, Fisher J, Regan J, Christison AL
MedEdPORTAL 2018 Jun 26;14:10725. doi: 10.15766/mep_2374-8265.10725. PMID: 30800925Free PMC Article
Moore LG, Niermeyer S, Vargas E
Respir Physiol Neurobiol 2007 Sep 30;158(2-3):180-9. Epub 2007 Jul 7 doi: 10.1016/j.resp.2007.06.016. PMID: 17706469
Farias JG, Osorio J, Soto G, Brito J, Siques P, Reyes JG
High Alt Med Biol 2006 Winter;7(4):302-6. doi: 10.1089/ham.2006.7.302. PMID: 17173515

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
Galvin HM, Cooke K, Sumners DP, Mileva KN, Bowtell JL
Br J Sports Med 2013 Dec;47 Suppl 1(Suppl 1):i74-9. doi: 10.1136/bjsports-2013-092826. PMID: 24282212Free PMC Article
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
Hsia CC
Am J Med Sci 1994 Jun;307(6):448-64. doi: 10.1097/00000441-199406000-00013. PMID: 8198153

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
Linck EB, Williamson JL, Bautista E, Beckman EJ, Benham PM, DuBay SG, Flores LM, Gadek CR, Johnson AB, Jones MR, Núñez-Zapata J, Quiñonez A, Schmitt CJ, Susanibar D, Tiravanti C J, Verde-Guerra K, Wright NA, Valqui T, Storz JF, Witt CC
Am Nat 2023 May;201(5):741-754. Epub 2023 Mar 21 doi: 10.1086/723222. PMID: 37130238
Berrocal Y, Fisher J, Regan J, Christison AL
MedEdPORTAL 2018 Jun 26;14:10725. doi: 10.15766/mep_2374-8265.10725. PMID: 30800925Free PMC Article
Wagner PD
High Alt Med Biol 2010 Summer;11(2):111-9. doi: 10.1089/ham.2009.1084. PMID: 20586595Free PMC Article
Cerretelli P
J Appl Physiol 1976 May;40(5):658-67. doi: 10.1152/jappl.1976.40.5.658. PMID: 931890

Clinical prediction guides

Linck EB, Williamson JL, Bautista E, Beckman EJ, Benham PM, DuBay SG, Flores LM, Gadek CR, Johnson AB, Jones MR, Núñez-Zapata J, Quiñonez A, Schmitt CJ, Susanibar D, Tiravanti C J, Verde-Guerra K, Wright NA, Valqui T, Storz JF, Witt CC
Am Nat 2023 May;201(5):741-754. Epub 2023 Mar 21 doi: 10.1086/723222. PMID: 37130238
Mejuto G, Calleja-Gonzalez J, Lekue JA, Leibar X, Garate R, Emparanza JI, Erauzkin J, Beldarrain M, Terrados N
High Alt Med Biol 2014 Sep;15(3):406-11. Epub 2014 Aug 27 doi: 10.1089/ham.2013.1143. PMID: 25162935
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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