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Carrier of hereditary factor VIII deficiency disease

MedGen UID:
632803
•Concept ID:
C0472801
•
Disease or Syndrome
Synonym: Hemophilia A carrier
SNOMED CT: Carrier of hereditary factor VIII deficiency disease (234441009); Hemophilia A carrier (234441009)

Professional guidelines

PubMed

Management of pregnant women who have bleeding disorders.
James AH, Pacheco LD, Konkle BA
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):229-236. doi: 10.1182/hematology.2023000475. PMID: 38066866Free PMC Article
Perinatal Management of Haemophilia.
Streif W, Knöfler R
Hamostaseologie 2020 May;40(2):226-232. Epub 2020 May 28 doi: 10.1055/a-1141-1252. PMID: 32464679
Diagnosis and management of haemophilia.
Fijnvandraat K, Cnossen MH, Leebeek FW, Peters M
BMJ 2012 May 2;344:e2707. doi: 10.1136/bmj.e2707. PMID: 22551712

Recent clinical studies

Etiology

Management of pregnant women who have bleeding disorders.
James AH, Pacheco LD, Konkle BA
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):229-236. doi: 10.1182/hematology.2023000475. PMID: 38066866Free PMC Article
Von Willebrand Disease, Hemophilia, and Other Inherited Bleeding Disorders in Pregnancy.
Pacheco LD, Saade GR, James AH
Obstet Gynecol 2023 Mar 1;141(3):493-504. Epub 2023 Feb 2 doi: 10.1097/AOG.0000000000005083. PMID: 36800851
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United States.
Johnsen JM, Fletcher SN, Dove A, McCracken H, Martin BK, Kircher M, Josephson NC, Shendure J, Ruuska SE, Valentino LA, Pierce GF, Watson C, Cheng D, Recht M, Konkle BA
J Thromb Haemost 2022 Sep;20(9):2022-2034. Epub 2022 Jul 17 doi: 10.1111/jth.15805. PMID: 35770352
Perinatal Management of Haemophilia.
Streif W, Knöfler R
Hamostaseologie 2020 May;40(2):226-232. Epub 2020 May 28 doi: 10.1055/a-1141-1252. PMID: 32464679
Perinatal aspects of haemophilia.
Economou M, Banov L, Ljung R
Eur J Haematol Suppl 2014 Aug;76:21-5. doi: 10.1111/ejh.12371. PMID: 24957104

Diagnosis

Von Willebrand Disease, Hemophilia, and Other Inherited Bleeding Disorders in Pregnancy.
Pacheco LD, Saade GR, James AH
Obstet Gynecol 2023 Mar 1;141(3):493-504. Epub 2023 Feb 2 doi: 10.1097/AOG.0000000000005083. PMID: 36800851
Hemophilia A (Factor VIII Deficiency).
Seaman CD, Xavier F, Ragni MV
Hematol Oncol Clin North Am 2021 Dec;35(6):1117-1129. Epub 2021 Aug 10 doi: 10.1016/j.hoc.2021.07.006. PMID: 34389199
Perinatal Management of Haemophilia.
Streif W, Knöfler R
Hamostaseologie 2020 May;40(2):226-232. Epub 2020 May 28 doi: 10.1055/a-1141-1252. PMID: 32464679
Perinatal aspects of haemophilia.
Economou M, Banov L, Ljung R
Eur J Haematol Suppl 2014 Aug;76:21-5. doi: 10.1111/ejh.12371. PMID: 24957104
Diagnosis and management of haemophilia.
Fijnvandraat K, Cnossen MH, Leebeek FW, Peters M
BMJ 2012 May 2;344:e2707. doi: 10.1136/bmj.e2707. PMID: 22551712

Therapy

Management of pregnant women who have bleeding disorders.
James AH, Pacheco LD, Konkle BA
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):229-236. doi: 10.1182/hematology.2023000475. PMID: 38066866Free PMC Article
Regulation and importance of factor VIII levels in hemophilia A carriers.
Cygan PH, Kouides PA
Curr Opin Hematol 2021 Sep 1;28(5):315-322. doi: 10.1097/MOH.0000000000000667. PMID: 34397591
Escape or Fight: Inhibitors in Hemophilia A.
Merlin S, Follenzi A
Front Immunol 2020;11:476. Epub 2020 Mar 24 doi: 10.3389/fimmu.2020.00476. PMID: 32265927Free PMC Article
Perinatal aspects of haemophilia.
Economou M, Banov L, Ljung R
Eur J Haematol Suppl 2014 Aug;76:21-5. doi: 10.1111/ejh.12371. PMID: 24957104
Diagnosis and management of haemophilia.
Fijnvandraat K, Cnossen MH, Leebeek FW, Peters M
BMJ 2012 May 2;344:e2707. doi: 10.1136/bmj.e2707. PMID: 22551712

Prognosis

Genetic analysis of carrier status in female members of Japanese hemophilia families.
Shinozawa K, Amano K, Hagiwara T, Bingo M, Chikasawa Y, Inaba H, Kinai E, Fukutake K
J Thromb Haemost 2021 Jun;19(6):1493-1505. Epub 2021 May 5 doi: 10.1111/jth.15301. PMID: 33760382Free PMC Article
Inherited Bleeding Disorders in the Obstetric Patient.
Bannow BS, Konkle BA
Transfus Med Rev 2018 Oct;32(4):237-243. Epub 2018 Jul 12 doi: 10.1016/j.tmrv.2018.06.003. PMID: 30097224
Genetic diagnosis in hemophilia and von Willebrand disease.
Swystun LL, James PD
Blood Rev 2017 Jan;31(1):47-56. Epub 2016 Aug 17 doi: 10.1016/j.blre.2016.08.003. PMID: 27596108
Factor deficiencies in pregnancy.
Pike GN, Bolton-Maggs PH
Hematol Oncol Clin North Am 2011 Apr;25(2):359-78, viii-ix. doi: 10.1016/j.hoc.2011.01.007. PMID: 21444035
Mosaics and haemophilia.
Kasper CK, Buzin CH
Haemophilia 2009 Nov;15(6):1181-6. Epub 2009 Mar 11 doi: 10.1111/j.1365-2516.2009.02003.x. PMID: 19473426

Clinical prediction guides

Regulation and importance of factor VIII levels in hemophilia A carriers.
Cygan PH, Kouides PA
Curr Opin Hematol 2021 Sep 1;28(5):315-322. doi: 10.1097/MOH.0000000000000667. PMID: 34397591
Inherited Bleeding Disorders in the Obstetric Patient.
Bannow BS, Konkle BA
Transfus Med Rev 2018 Oct;32(4):237-243. Epub 2018 Jul 12 doi: 10.1016/j.tmrv.2018.06.003. PMID: 30097224
Genetic diagnosis in hemophilia and von Willebrand disease.
Swystun LL, James PD
Blood Rev 2017 Jan;31(1):47-56. Epub 2016 Aug 17 doi: 10.1016/j.blre.2016.08.003. PMID: 27596108
Mosaics and haemophilia.
Kasper CK, Buzin CH
Haemophilia 2009 Nov;15(6):1181-6. Epub 2009 Mar 11 doi: 10.1111/j.1365-2516.2009.02003.x. PMID: 19473426
Haemophilia A: molecular insights.
Castaldo G, D'Argenio V, Nardiello P, Zarrilli F, Sanna V, Rocino A, Coppola A, Di Minno G, Salvatore F
Clin Chem Lab Med 2007;45(4):450-61. doi: 10.1515/CCLM.2007.093. PMID: 17439320

Recent systematic reviews

Delivery and neuraxial technique outcomes in patients with hemophilia and in hemophilia carriers: a systematic review.
Togioka BM, Burwick RM, Kujovich JL
J Anesth 2021 Apr;35(2):288-302. Epub 2021 Mar 8 doi: 10.1007/s00540-021-02911-1. PMID: 33682038
The experiences and attitudes of hemophilia carriers around pregnancy: A qualitative systematic review.
Punt MC, Aalders TH, Bloemenkamp KWM, Driessens MHE, Fischer K, Schrijvers MH, van Galen KPM
J Thromb Haemost 2020 Jul;18(7):1626-1636. Epub 2020 May 12 doi: 10.1111/jth.14825. PMID: 32271985Free PMC Article
Care models in the management of haemophilia: a systematic review.
Yeung CH, Santesso N, Pai M, Kessler C, Key NS, Makris M, Navarro-Ruan T, Soucie JM, Schünemann HJ, Iorio A
Haemophilia 2016 Jul;22 Suppl 3(Suppl 3):31-40. doi: 10.1111/hae.13000. PMID: 27348399Free PMC Article
Psychosocial aspects of haemophilia: a systematic review of methodologies and findings.
Cassis FR, Querol F, Forsyth A, Iorio A; HERO International Advisory Board
Haemophilia 2012 May;18(3):e101-14. Epub 2011 Nov 8 doi: 10.1111/j.1365-2516.2011.02683.x. PMID: 22059839
Attitudes towards carrier testing in minors: a systematic review.
Borry P, Fryns JP, Schotsmans P, Dierickx K
Genet Couns 2005;16(4):341-52. PMID: 16440876

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