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Mild hemophilia A

MedGen UID:
543975
•Concept ID:
C0272324
•
Disease or Syndrome
Synonym: HEMOPHILIA A, MILD
SNOMED CT: Mild hereditary factor VIII deficiency disease (26029002); Mild hemophilia A (26029002)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015721
OMIM®: 300841
Orphanet: ORPHA169808

Definition

Mild disease manifests factor VIII activity of greater than 5% of normal [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMild hemophilia A
Follow this link to review classifications for Mild hemophilia A in Orphanet.

Professional guidelines

PubMed

Clinical pharmacology of emicizumab for the treatment of hemophilia A.
Yoneyama K, Schmitt C, Portron A, Kiialainen A, Kotani N, Jaminion F, Retout S, Adamkewicz JI
Expert Rev Clin Pharmacol 2023 Jul-Dec;16(9):775-790. Epub 2023 Aug 21 doi: 10.1080/17512433.2023.2243213. PMID: 37529848
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Makris M, Oldenburg J, Mauser-Bunschoten EP, Peerlinck K, Castaman G, Fijnvandraat K; subcommittee on Factor VIII, Factor IX and Rare Bleeding Disorders
J Thromb Haemost 2018 Dec;16(12):2530-2533. Epub 2018 Nov 15 doi: 10.1111/jth.14315. PMID: 30430726
Inhibitors in childhood hemophilia A: genetic and treatment-related risk factors for development and eradication.
DiMichele DM
Pediatr Blood Cancer 2013;60 Suppl 1:S30-3. Epub 2012 Oct 25 doi: 10.1002/pbc.24338. PMID: 23109404

Recent clinical studies

Etiology

Diagnosing von Willebrand disease: genetic analysis.
Goodeve A
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):678-682. doi: 10.1182/asheducation-2016.1.678. PMID: 27913546Free PMC Article
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A.
Castaman G, Eckhardt C, van Velzen A, Linari S, Fijnvandraat K
Semin Thromb Hemost 2016 Jul;42(5):507-12. Epub 2016 May 5 doi: 10.1055/s-0036-1571309. PMID: 27148839
Hemophilia A in the third millennium.
Franchini M, Mannucci PM
Blood Rev 2013 Jul;27(4):179-84. Epub 2013 Jun 28 doi: 10.1016/j.blre.2013.06.002. PMID: 23815950
Inhibitors in childhood hemophilia A: genetic and treatment-related risk factors for development and eradication.
DiMichele DM
Pediatr Blood Cancer 2013;60 Suppl 1:S30-3. Epub 2012 Oct 25 doi: 10.1002/pbc.24338. PMID: 23109404
Mild hemophilia A.
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

The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Makris M, Oldenburg J, Mauser-Bunschoten EP, Peerlinck K, Castaman G, Fijnvandraat K; subcommittee on Factor VIII, Factor IX and Rare Bleeding Disorders
J Thromb Haemost 2018 Dec;16(12):2530-2533. Epub 2018 Nov 15 doi: 10.1111/jth.14315. PMID: 30430726
Diagnosing von Willebrand disease: genetic analysis.
Goodeve A
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):678-682. doi: 10.1182/asheducation-2016.1.678. PMID: 27913546Free PMC Article
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A.
Castaman G, Eckhardt C, van Velzen A, Linari S, Fijnvandraat K
Semin Thromb Hemost 2016 Jul;42(5):507-12. Epub 2016 May 5 doi: 10.1055/s-0036-1571309. PMID: 27148839
Hemophilia A in the third millennium.
Franchini M, Mannucci PM
Blood Rev 2013 Jul;27(4):179-84. Epub 2013 Jun 28 doi: 10.1016/j.blre.2013.06.002. PMID: 23815950
Mild hemophilia A.
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

Therapy

Desmopressin therapy in children and adults: pharmacological considerations and clinical implications.
Chin X, Teo SW, Lim ST, Ng YH, Han HC, Yap F
Eur J Clin Pharmacol 2022 Jun;78(6):907-917. Epub 2022 Feb 23 doi: 10.1007/s00228-022-03297-z. PMID: 35199198
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Makris M, Oldenburg J, Mauser-Bunschoten EP, Peerlinck K, Castaman G, Fijnvandraat K; subcommittee on Factor VIII, Factor IX and Rare Bleeding Disorders
J Thromb Haemost 2018 Dec;16(12):2530-2533. Epub 2018 Nov 15 doi: 10.1111/jth.14315. PMID: 30430726
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A.
Castaman G, Eckhardt C, van Velzen A, Linari S, Fijnvandraat K
Semin Thromb Hemost 2016 Jul;42(5):507-12. Epub 2016 May 5 doi: 10.1055/s-0036-1571309. PMID: 27148839
Inhibitors in childhood hemophilia A: genetic and treatment-related risk factors for development and eradication.
DiMichele DM
Pediatr Blood Cancer 2013;60 Suppl 1:S30-3. Epub 2012 Oct 25 doi: 10.1002/pbc.24338. PMID: 23109404
Mild hemophilia A.
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

Prognosis

Moderate-intensity aerobic exercise vs desmopressin in adolescent males with mild hemophilia A: a randomized trial.
Kumar R, Dunn AL, Schneiderman JE, Gonzales A, Bouskill V, Widener P, Stanek J, Pluthero FG, Waller A, Tarango C, Ahuja S, Kerlin BA, Kahr WHA, Rand ML, Lillicrap D, Carcao M
Blood 2022 Sep 8;140(10):1156-1166. doi: 10.1182/blood.2022016146. PMID: 35839450
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Makris M, Oldenburg J, Mauser-Bunschoten EP, Peerlinck K, Castaman G, Fijnvandraat K; subcommittee on Factor VIII, Factor IX and Rare Bleeding Disorders
J Thromb Haemost 2018 Dec;16(12):2530-2533. Epub 2018 Nov 15 doi: 10.1111/jth.14315. PMID: 30430726
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
Jourdy Y, Janin A, Fretigny M, Lienhart A, Négrier C, Bozon D, Vinciguerra C
Am J Hum Genet 2018 Feb 1;102(2):199-206. Epub 2018 Jan 18 doi: 10.1016/j.ajhg.2017.12.010. PMID: 29357978Free PMC Article
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.
Castaman G, Fijnvandraat K
Blood 2014 Oct 9;124(15):2333-6. Epub 2014 Aug 18 doi: 10.1182/blood-2014-02-546127. PMID: 25139352Free PMC Article
The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development.
Goodeve AC, Peake IR
Semin Thromb Hemost 2003 Feb;29(1):23-30. doi: 10.1055/s-2003-37936. PMID: 12640561

Clinical prediction guides

Functional determination of emicizumab in presence of factor VIII activity.
Hamedani NS, Donners AAMT, van Luin M, Gasper S, Rühl H, Klein C, Albert T, El Amrani M, Pötzsch B, Oldenburg J, Müller J
J Thromb Haemost 2023 Dec;21(12):3490-3500. Epub 2023 Sep 21 doi: 10.1016/j.jtha.2023.09.011. PMID: 37741510
The bleeding phenotype in people with nonsevere hemophilia.
Kloosterman FR, Zwagemaker AF, Bagot CN, Beckers EAM, Castaman G, Cnossen MH, Collins PW, Hay C, Hof M, Laros-van Gorkom B, Leebeek FWG, Male C, Meijer K, Pabinger I, Shapiro S, Coppens M, Fijnvandraat K, Gouw SC
Blood Adv 2022 Jul 26;6(14):4256-4265. doi: 10.1182/bloodadvances.2022007620. PMID: 35533261Free PMC Article
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.
Makris M, Oldenburg J, Mauser-Bunschoten EP, Peerlinck K, Castaman G, Fijnvandraat K; subcommittee on Factor VIII, Factor IX and Rare Bleeding Disorders
J Thromb Haemost 2018 Dec;16(12):2530-2533. Epub 2018 Nov 15 doi: 10.1111/jth.14315. PMID: 30430726
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.
Castaman G, Fijnvandraat K
Blood 2014 Oct 9;124(15):2333-6. Epub 2014 Aug 18 doi: 10.1182/blood-2014-02-546127. PMID: 25139352Free PMC Article
The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development.
Goodeve AC, Peake IR
Semin Thromb Hemost 2003 Feb;29(1):23-30. doi: 10.1055/s-2003-37936. PMID: 12640561

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