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Anhaptoglobinemia(AHP)

MedGen UID:
481416
Concept ID:
C3279786
Disease or Syndrome
Synonyms: AHAPTOGLOBINEMIA; AHP; ANHAPTOGLOBINEMIA, SUSCEPTIBILITY TO
 
Gene (location): HP (16q22.2)
 
Monarch Initiative: MONDO:0013564
OMIM®: 614081

Definition

Anhaptoglobinemia refers to absence of the serum glycoprotein haptoglobin, a hemoglobin-binding acute-phase protein (summary by Teye et al., 2004). Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin (summary by Delanghe et al., 1998). [from OMIM]

Recent clinical studies

Etiology

Soejima M, Agusa T, Iwata H, Fujihara J, Kunito T, Takeshita H, Lan VT, Minh TB, Takahashi S, Trang PT, Viet PH, Tanabe S, Koda Y
Leg Med (Tokyo) 2015 Jan;17(1):14-6. Epub 2014 Aug 27 doi: 10.1016/j.legalmed.2014.08.004. PMID: 25212669
Zhou BY, Yan SY, Shi WL, Qu Z, Zhao X, Liu ZM, Pu XP
PLoS One 2014;9(4):e95345. Epub 2014 Apr 17 doi: 10.1371/journal.pone.0095345. PMID: 24743330Free PMC Article
Soejima M, Egashira K, Kawano H, Kawaguchi A, Sagawa K, Koda Y
J Mol Diagn 2011 May;13(3):334-9. doi: 10.1016/j.jmoldx.2011.01.005. PMID: 21497293Free PMC Article
Soejima M, Tsuchiya Y, Egashira K, Kawano H, Sagawa K, Koda Y
Transfusion 2010 Jun;50(6):1322-7. Epub 2010 Jan 22 doi: 10.1111/j.1537-2995.2009.02581.x. PMID: 20113448
de Azevedo TF, Salzano FM, Azevedo ES
Hum Hered 1974;24(3):300-5. doi: 10.1159/000152664. PMID: 4435797

Diagnosis

Gunzer S, Kraus A, Buchroth I, Grüneberg M, Westermann C, Biskup S, Reunert J, Grünewald I, Marquardt T
Liver Int 2021 Oct;41(10):2427-2432. Epub 2021 Aug 16 doi: 10.1111/liv.15029. PMID: 34358398
Kim H, Choi J, Park KU, Kim HS, Min YH, Kim MJ, Kim HO
Ann Lab Med 2012 Jul;32(4):304-6. Epub 2012 Jun 20 doi: 10.3343/alm.2012.32.4.304. PMID: 22779074Free PMC Article
Soejima M, Egashira K, Kawano H, Kawaguchi A, Sagawa K, Koda Y
J Mol Diagn 2011 May;13(3):334-9. doi: 10.1016/j.jmoldx.2011.01.005. PMID: 21497293Free PMC Article
Soejima M, Tsuchiya Y, Egashira K, Kawano H, Sagawa K, Koda Y
Transfusion 2010 Jun;50(6):1322-7. Epub 2010 Jan 22 doi: 10.1111/j.1537-2995.2009.02581.x. PMID: 20113448
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697

Therapy

Kim H, Choi J, Park KU, Kim HS, Min YH, Kim MJ, Kim HO
Ann Lab Med 2012 Jul;32(4):304-6. Epub 2012 Jun 20 doi: 10.3343/alm.2012.32.4.304. PMID: 22779074Free PMC Article
Nishiki S, Hino M, Kumura T, Hashimoto S, Ohta K, Yamane T, Takubo T, Tatsumi N, Kitagawa S, Kamitani T, Watanabe Y, Shimada E, Juji T, Iida S
Transfus Med 2002 Feb;12(1):71-3. doi: 10.1046/j.1365-3148.2002.00350.x. PMID: 11967140
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697
Kuriyama M, Sonoda K, Igata A
Am J Med 1985 May;78(5):850-2. doi: 10.1016/0002-9343(85)90292-x. PMID: 3993662

Prognosis

Gupta N, Shankernarayan NP, Dharmalingam K
J Proteome Res 2007 Sep;6(9):3669-79. Epub 2007 Jul 20 doi: 10.1021/pr070223p. PMID: 17658739

Clinical prediction guides

Zhou BY, Yan SY, Shi WL, Qu Z, Zhao X, Liu ZM, Pu XP
PLoS One 2014;9(4):e95345. Epub 2014 Apr 17 doi: 10.1371/journal.pone.0095345. PMID: 24743330Free PMC Article
Gupta N, Shankernarayan NP, Dharmalingam K
J Proteome Res 2007 Sep;6(9):3669-79. Epub 2007 Jul 20 doi: 10.1021/pr070223p. PMID: 17658739
Telen MJ, Roberts KB, Bartlett JA
J Acquir Immune Defic Syndr (1988) 1990;3(10):933-7. PMID: 2204697
Davidson RJ, Robertson JD, Galea G, Maughan RJ
Int J Sports Med 1987 Feb;8(1):19-25. doi: 10.1055/s-2008-1025634. PMID: 3557778
Kuriyama M, Sonoda K, Igata A
Am J Med 1985 May;78(5):850-2. doi: 10.1016/0002-9343(85)90292-x. PMID: 3993662

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