U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Severe hereditary factor VIII deficiency disease without inhibitor

MedGen UID:
749013
Concept ID:
C2584751
Disease or Syndrome
Synonym: Severe hemophilia A without inhibitor
SNOMED CT: Severe hereditary factor VIII deficiency disease without inhibitor (440993008); Severe hemophilia A without inhibitor (440993008)

Professional guidelines

PubMed

Knoebl P, Thaler J, Jilma P, Quehenberger P, Gleixner K, Sperr WR
Blood 2021 Jan 21;137(3):410-419. doi: 10.1182/blood.2020006315. PMID: 32766881
Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, Tiede A, Kessler CM
Am J Hematol 2017 Jul;92(7):695-705. Epub 2017 Jun 5 doi: 10.1002/ajh.24777. PMID: 28470674
Mingot-Castellano ME, Núñez R, Rodríguez-Martorell FJ
Med Clin (Barc) 2017 Apr 7;148(7):314-322. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.030. PMID: 28118963

Recent clinical studies

Etiology

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
Streif W, Knöfler R
Hamostaseologie 2020 May;40(2):226-232. Epub 2020 May 28 doi: 10.1055/a-1141-1252. PMID: 32464679
Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, Tiede A, Kessler CM
Am J Hematol 2017 Jul;92(7):695-705. Epub 2017 Jun 5 doi: 10.1002/ajh.24777. PMID: 28470674
Berntorp E, Shapiro AD
Lancet 2012 Apr 14;379(9824):1447-56. Epub 2012 Mar 27 doi: 10.1016/S0140-6736(11)61139-2. PMID: 22456059
Franchini M, Favaloro EJ, Lippi G
J Thromb Haemost 2010 Mar;8(3):421-32. Epub 2009 Dec 7 doi: 10.1111/j.1538-7836.2009.03717.x. PMID: 19995408

Diagnosis

Pai M
Hematol Oncol Clin North Am 2021 Dec;35(6):1131-1142. Epub 2021 Sep 15 doi: 10.1016/j.hoc.2021.07.007. PMID: 34535289
Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, Tiede A, Kessler CM
Am J Hematol 2017 Jul;92(7):695-705. Epub 2017 Jun 5 doi: 10.1002/ajh.24777. PMID: 28470674
Mingot-Castellano ME, Núñez R, Rodríguez-Martorell FJ
Med Clin (Barc) 2017 Apr 7;148(7):314-322. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.030. PMID: 28118963
Peyvandi F, Garagiola I, Young G
Lancet 2016 Jul 9;388(10040):187-97. Epub 2016 Feb 18 doi: 10.1016/S0140-6736(15)01123-X. PMID: 26897598
Bolton-Maggs PH, Pasi KJ
Lancet 2003 May 24;361(9371):1801-9. doi: 10.1016/S0140-6736(03)13405-8. PMID: 12781551

Therapy

Young G, Srivastava A, Kavakli K, Ross C, Sathar J, You CW, Tran H, Sun J, Wu R, Poloskey S, Qiu Z, Kichou S, Andersson S, Mei B, Rangarajan S
Lancet 2023 Apr 29;401(10386):1427-1437. Epub 2023 Mar 29 doi: 10.1016/S0140-6736(23)00284-2. PMID: 37003287
Mahlangu J, Luis Lamas J, Cristobal Morales J, Malan DR, Teeter J, Charnigo RJ, Hwang E, Arkin S
Br J Haematol 2023 Jan;200(2):240-248. Epub 2022 Oct 11 doi: 10.1111/bjh.18495. PMID: 36220152Free PMC Article
Ozelo MC, Mahlangu J, Pasi KJ, Giermasz A, Leavitt AD, Laffan M, Symington E, Quon DV, Wang JD, Peerlinck K, Pipe SW, Madan B, Key NS, Pierce GF, O'Mahony B, Kaczmarek R, Henshaw J, Lawal A, Jayaram K, Huang M, Yang X, Wong WY, Kim B; GENEr8-1 Trial Group
N Engl J Med 2022 Mar 17;386(11):1013-1025. doi: 10.1056/NEJMoa2113708. PMID: 35294811
Blair HA
Drugs 2019 Oct;79(15):1697-1707. doi: 10.1007/s40265-019-01200-2. PMID: 31542880
Mingot-Castellano ME, Núñez R, Rodríguez-Martorell FJ
Med Clin (Barc) 2017 Apr 7;148(7):314-322. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.030. PMID: 28118963

Prognosis

Pasi KJ, Rangarajan S, Mitchell N, Lester W, Symington E, Madan B, Laffan M, Russell CB, Li M, Pierce GF, Wong WY
N Engl J Med 2020 Jan 2;382(1):29-40. doi: 10.1056/NEJMoa1908490. PMID: 31893514
Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, Tiede A, Kessler CM
Am J Hematol 2017 Jul;92(7):695-705. Epub 2017 Jun 5 doi: 10.1002/ajh.24777. PMID: 28470674
Mingot-Castellano ME, Núñez R, Rodríguez-Martorell FJ
Med Clin (Barc) 2017 Apr 7;148(7):314-322. Epub 2017 Jan 22 doi: 10.1016/j.medcli.2016.11.030. PMID: 28118963
Berntorp E, Shapiro AD
Lancet 2012 Apr 14;379(9824):1447-56. Epub 2012 Mar 27 doi: 10.1016/S0140-6736(11)61139-2. PMID: 22456059
Manco-Johnson MJ, Abshire TC, Shapiro AD, Riske B, Hacker MR, Kilcoyne R, Ingram JD, Manco-Johnson ML, Funk S, Jacobson L, Valentino LA, Hoots WK, Buchanan GR, DiMichele D, Recht M, Brown D, Leissinger C, Bleak S, Cohen A, Mathew P, Matsunaga A, Medeiros D, Nugent D, Thomas GA, Thompson AA, McRedmond K, Soucie JM, Austin H, Evatt BL
N Engl J Med 2007 Aug 9;357(6):535-44. doi: 10.1056/NEJMoa067659. PMID: 17687129

Clinical prediction guides

Mahlangu J, Luis Lamas J, Cristobal Morales J, Malan DR, Teeter J, Charnigo RJ, Hwang E, Arkin S
Br J Haematol 2023 Jan;200(2):240-248. Epub 2022 Oct 11 doi: 10.1111/bjh.18495. PMID: 36220152Free PMC Article
Nogami K, Shima M
Br J Haematol 2023 Jan;200(1):23-34. Epub 2022 Jul 23 doi: 10.1111/bjh.18379. PMID: 35869698
Klamroth R, Windyga J, Radulescu V, Collins PW, Stasyshyn O, Ibrahim HM, Engl W, Tangada SD, Savage W, Ewenstein B
Blood 2021 Apr 1;137(13):1818-1827. doi: 10.1182/blood.2020005673. PMID: 33150384Free PMC Article
Knoebl P, Thaler J, Jilma P, Quehenberger P, Gleixner K, Sperr WR
Blood 2021 Jan 21;137(3):410-419. doi: 10.1182/blood.2020006315. PMID: 32766881
Pasi KJ, Rangarajan S, Mitchell N, Lester W, Symington E, Madan B, Laffan M, Russell CB, Li M, Pierce GF, Wong WY
N Engl J Med 2020 Jan 2;382(1):29-40. doi: 10.1056/NEJMoa1908490. PMID: 31893514

Recent systematic reviews

Jiang L, Liu Y, Zhang L, Santoro C, Rodriguez A
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD010810. doi: 10.1002/14651858.CD010810.pub3. PMID: 28685500Free PMC Article
Osooli M, Berntorp E
J Intern Med 2015 Jan;277(1):1-15. Epub 2014 Sep 18 doi: 10.1111/joim.12301. PMID: 25169114
van Velzen AS, Peters M, van der Bom JG, Fijnvandraat K
Br J Haematol 2014 Aug;166(4):485-95. Epub 2014 May 16 doi: 10.1111/bjh.12942. PMID: 24837603
Eckhardt CL, van der Bom JG, van der Naald M, Peters M, Kamphuisen PW, Fijnvandraat K
J Thromb Haemost 2011 Oct;9(10):1948-58. doi: 10.1111/j.1538-7836.2011.04467.x. PMID: 21838755
Franchini M, Zaffanello M, Lippi G
Pediatr Blood Cancer 2010 Oct;55(4):606-11. doi: 10.1002/pbc.22657. PMID: 20589621

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...