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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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMild hemophilia A

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation protein disease
        Hereditary factor VIII deficiency disease
        Mild hemophilia A

Follow this link to review classifications for Mild hemophilia A in Orphanet.

Professional guidelines

PubMed

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

Guillet B, Pawlowski M, Boisseau P, Répessé Y, Beurrier P, Bayart S, Delavenne X, Trossaërt M, Lenting PJ
Thromb Haemost 2024 Oct;124(10):922-936. Epub 2024 May 17 doi: 10.1055/a-2329-3375. PMID: 38759975

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

See all (18)

Recent clinical studies

Etiology

Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation.

Lewandowski B, Wojnar J, Brodowski R, Mucha M, Czenczek-Lewandowska E, Brzęcka D
Pol Arch Intern Med 2018 Aug 31;128(7-8):488-490. Epub 2018 Jul 11 doi: 10.20452/pamw.4298. PMID: 30057379

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

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: 25139352 Free PMC Article

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

See all (63)

Diagnosis

The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.

Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A.

Bobrowski A, Cseh A, Pschibul A, Schorling D, Moske-Eick O, Raedecke J, Zieger B
Klin Padiatr 2018 Oct;230(6):333-335. Epub 2018 Mar 27 doi: 10.1055/a-0586-4514. PMID: 29589344

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

See all (67)

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.

Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation.

Lewandowski B, Wojnar J, Brodowski R, Mucha M, Czenczek-Lewandowska E, Brzęcka D
Pol Arch Intern Med 2018 Aug 31;128(7-8):488-490. Epub 2018 Jul 11 doi: 10.20452/pamw.4298. PMID: 30057379

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

Regulated release of VWF and FVIII and the biologic implications.

Haberichter SL, Shi Q, Montgomery RR
Pediatr Blood Cancer 2006 May 1;46(5):547-53. doi: 10.1002/pbc.20658. PMID: 16470522

See all (77)

Prognosis

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.

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: 29357978 Free 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: 25139352 Free 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

See all (27)

Clinical prediction guides

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

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 definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH.

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: 25139352 Free 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

See all (41)

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Mild hemophilia A

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

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