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Moderately severe hemophilia A

MedGen UID:
543974
•Concept ID:
C0272323
•
Disease or Syndrome
Synonyms: Moderate congenital F8 deficiency; Moderate congenital factor VIII deficiency; Moderate hemophilia A; Moderate hereditary factor VIII deficiency disease; moderately severe factor VIII deficiency; moderately severe haemophilia type A; moderately severe hemophilia A; moderately severe hemophilia type A
SNOMED CT: Moderate hereditary factor VIII deficiency disease (33344008); Moderate hemophilia A (33344008)
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:0015720
Orphanet: ORPHA169805

Definition

Moderate disease manifests factor VIII activity of 2% to 5% of normal [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVModerately severe hemophilia A

Professional guidelines

PubMed

International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology.
Rezende SM, Neumann I, Angchaisuksiri P, Awodu O, Boban A, Cuker A, Curtin JA, Fijnvandraat K, Gouw SC, Gualtierotti R, Makris M, Nahuelhual P, O'Connell N, Saxena R, Shima M, Wu R, Rosendaal FR
J Thromb Haemost 2024 Sep;22(9):2629-2652. Epub 2024 Jun 20 doi: 10.1016/j.jtha.2024.05.026. PMID: 39043543

Recent clinical studies

Etiology

Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Jardim LL, Schieber TA, Santana MP, Cerqueira MH, Lorenzato CS, Franco VKB, Zuccherato LW, da Silva Santos BA, Chaves DG, Ravetti MG, Rezende SM
J Thromb Haemost 2024 Sep;22(9):2426-2437. Epub 2024 May 27 doi: 10.1016/j.jtha.2024.05.017. PMID: 38810700
Risk factors for antibody formation in children with hemophilia: methodological aspects and clinical characteristics of the HEMFIL cohort study.
Jardim LL, Santana MP, Chaves DG, van der Bom J, Rezende SM
Blood Coagul Fibrinolysis 2021 Oct 1;32(7):443-450. doi: 10.1097/MBC.0000000000001057. PMID: 34127617
Phase 4 Safety and Efficacy Study of Antihemophilic Factor (Recombinant) in Previously Treated Chinese Patients With Severe/Moderately Severe Hemophilia A.
Zhao Y, Hu Y, Jin J, Zhao X, Wang X, Wu R, Wu D, Yang R, Yang F, Hu Q, Wang J, Fang H, Engl W
Clin Appl Thromb Hemost 2021 Jan-Dec;27:1076029621989811. doi: 10.1177/1076029621989811. PMID: 33587652Free PMC Article
Factor VIII products and inhibitor development in previously treated patients with severe or moderately severe hemophilia A: a systematic review.
Hassan S, Cannavò A, Gouw SC, Rosendaal FR, van der Bom JG
J Thromb Haemost 2018 Jun;16(6):1055-1068. Epub 2018 May 24 doi: 10.1111/jth.14124. PMID: 29665204
Severe degenerative joint disease. Mild and moderately severe hemophilia A.
Gilchrist GS, Hagedorn AB, Stauffer RN
JAMA 1977 Nov 28;238(22):2383-5. PMID: 578865

Diagnosis

International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology.
Rezende SM, Neumann I, Angchaisuksiri P, Awodu O, Boban A, Cuker A, Curtin JA, Fijnvandraat K, Gouw SC, Gualtierotti R, Makris M, Nahuelhual P, O'Connell N, Saxena R, Shima M, Wu R, Rosendaal FR
J Thromb Haemost 2024 Sep;22(9):2629-2652. Epub 2024 Jun 20 doi: 10.1016/j.jtha.2024.05.026. PMID: 39043543
Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Jardim LL, Schieber TA, Santana MP, Cerqueira MH, Lorenzato CS, Franco VKB, Zuccherato LW, da Silva Santos BA, Chaves DG, Ravetti MG, Rezende SM
J Thromb Haemost 2024 Sep;22(9):2426-2437. Epub 2024 May 27 doi: 10.1016/j.jtha.2024.05.017. PMID: 38810700
Risk factors for antibody formation in children with hemophilia: methodological aspects and clinical characteristics of the HEMFIL cohort study.
Jardim LL, Santana MP, Chaves DG, van der Bom J, Rezende SM
Blood Coagul Fibrinolysis 2021 Oct 1;32(7):443-450. doi: 10.1097/MBC.0000000000001057. PMID: 34127617
Phase 4 Safety and Efficacy Study of Antihemophilic Factor (Recombinant) in Previously Treated Chinese Patients With Severe/Moderately Severe Hemophilia A.
Zhao Y, Hu Y, Jin J, Zhao X, Wang X, Wu R, Wu D, Yang R, Yang F, Hu Q, Wang J, Fang H, Engl W
Clin Appl Thromb Hemost 2021 Jan-Dec;27:1076029621989811. doi: 10.1177/1076029621989811. PMID: 33587652Free PMC Article
Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene.
Pieneman WC, Reitsma PH, Briët E
Thromb Haemost 1993 May 3;69(5):473-5. PMID: 8322269

Therapy

International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology.
Rezende SM, Neumann I, Angchaisuksiri P, Awodu O, Boban A, Cuker A, Curtin JA, Fijnvandraat K, Gouw SC, Gualtierotti R, Makris M, Nahuelhual P, O'Connell N, Saxena R, Shima M, Wu R, Rosendaal FR
J Thromb Haemost 2024 Sep;22(9):2629-2652. Epub 2024 Jun 20 doi: 10.1016/j.jtha.2024.05.026. PMID: 39043543
Risk factors for antibody formation in children with hemophilia: methodological aspects and clinical characteristics of the HEMFIL cohort study.
Jardim LL, Santana MP, Chaves DG, van der Bom J, Rezende SM
Blood Coagul Fibrinolysis 2021 Oct 1;32(7):443-450. doi: 10.1097/MBC.0000000000001057. PMID: 34127617
Phase 4 Safety and Efficacy Study of Antihemophilic Factor (Recombinant) in Previously Treated Chinese Patients With Severe/Moderately Severe Hemophilia A.
Zhao Y, Hu Y, Jin J, Zhao X, Wang X, Wu R, Wu D, Yang R, Yang F, Hu Q, Wang J, Fang H, Engl W
Clin Appl Thromb Hemost 2021 Jan-Dec;27:1076029621989811. doi: 10.1177/1076029621989811. PMID: 33587652Free PMC Article
Factor VIII products and inhibitor development in previously treated patients with severe or moderately severe hemophilia A: a systematic review.
Hassan S, Cannavò A, Gouw SC, Rosendaal FR, van der Bom JG
J Thromb Haemost 2018 Jun;16(6):1055-1068. Epub 2018 May 24 doi: 10.1111/jth.14124. PMID: 29665204

Prognosis

Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Jardim LL, Schieber TA, Santana MP, Cerqueira MH, Lorenzato CS, Franco VKB, Zuccherato LW, da Silva Santos BA, Chaves DG, Ravetti MG, Rezende SM
J Thromb Haemost 2024 Sep;22(9):2426-2437. Epub 2024 May 27 doi: 10.1016/j.jtha.2024.05.017. PMID: 38810700
Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure.
Liu ML, Shen BW, Nakaya S, Pratt KP, Fujikawa K, Davie EW, Stoddard BL, Thompson AR
Blood 2000 Aug 1;96(3):979-87. PMID: 10910913
Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.
Weinmann AF, Schoof JM, Thompson AR
Am J Hematol 1996 Mar;51(3):192-9. doi: 10.1002/(SICI)1096-8652(199603)51:3<192::AID-AJH3>3.0.CO;2-S. PMID: 8619399
Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A.
O'Brien DP, Pattinson JK, Tuddenham EG
Blood 1990 Apr 15;75(8):1664-72. PMID: 2109644
Severe degenerative joint disease. Mild and moderately severe hemophilia A.
Gilchrist GS, Hagedorn AB, Stauffer RN
JAMA 1977 Nov 28;238(22):2383-5. PMID: 578865

Clinical prediction guides

International Society on Thrombosis and Haemostasis clinical practice guideline for treatment of congenital hemophilia A and B based on the Grading of Recommendations Assessment, Development, and Evaluation methodology.
Rezende SM, Neumann I, Angchaisuksiri P, Awodu O, Boban A, Cuker A, Curtin JA, Fijnvandraat K, Gouw SC, Gualtierotti R, Makris M, Nahuelhual P, O'Connell N, Saxena R, Shima M, Wu R, Rosendaal FR
J Thromb Haemost 2024 Sep;22(9):2629-2652. Epub 2024 Jun 20 doi: 10.1016/j.jtha.2024.05.026. PMID: 39043543
Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network.
Jardim LL, Schieber TA, Santana MP, Cerqueira MH, Lorenzato CS, Franco VKB, Zuccherato LW, da Silva Santos BA, Chaves DG, Ravetti MG, Rezende SM
J Thromb Haemost 2024 Sep;22(9):2426-2437. Epub 2024 May 27 doi: 10.1016/j.jtha.2024.05.017. PMID: 38810700
Phase 4 Safety and Efficacy Study of Antihemophilic Factor (Recombinant) in Previously Treated Chinese Patients With Severe/Moderately Severe Hemophilia A.
Zhao Y, Hu Y, Jin J, Zhao X, Wang X, Wu R, Wu D, Yang R, Yang F, Hu Q, Wang J, Fang H, Engl W
Clin Appl Thromb Hemost 2021 Jan-Dec;27:1076029621989811. doi: 10.1177/1076029621989811. PMID: 33587652Free PMC Article
Factor VIII products and inhibitor development in previously treated patients with severe or moderately severe hemophilia A: a systematic review.
Hassan S, Cannavò A, Gouw SC, Rosendaal FR, van der Bom JG
J Thromb Haemost 2018 Jun;16(6):1055-1068. Epub 2018 May 24 doi: 10.1111/jth.14124. PMID: 29665204
Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.
Weinmann AF, Schoof JM, Thompson AR
Am J Hematol 1996 Mar;51(3):192-9. doi: 10.1002/(SICI)1096-8652(199603)51:3<192::AID-AJH3>3.0.CO;2-S. PMID: 8619399

Recent systematic reviews

Factor VIII products and inhibitor development in previously treated patients with severe or moderately severe hemophilia A: a systematic review.
Hassan S, Cannavò A, Gouw SC, Rosendaal FR, van der Bom JG
J Thromb Haemost 2018 Jun;16(6):1055-1068. Epub 2018 May 24 doi: 10.1111/jth.14124. PMID: 29665204

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