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{{Hemophilia}}
{{Hemophilia}}
{{CMG}};{{AE}} {{Simrat}}
{{CMG}};{{AE}} {{Sab}}
==Overview==
==Overview==
Laboratory findings consistent with the diagnosis of hemophilia include unaffected [[prothrombin time]], prolonged [[partial thromboplastin time]], unaffected [[bleeding time]] and unaffected [[platelet count]].
[[Medical laboratory|Laboratory]] findings consistent with the [[diagnosis]] of hemophilia include normal [[prothrombin time (PT)]], prolonged [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]], [[Prothrombin time|prolonged]] [[Bleeding time|bleeding time (BT)]], and normal [[platelet count]].
==Screening Tests==
[[Screening]] tests are blood tests that show if the blood is clotting properly. Types of screening tests:
===Complete Blood Count (CBC)===
This common test measures the amount of hemoglobin (the red pigment inside [[red blood cells]] that carries oxygen), the size and number of red blood cells and numbers of different types of [[white blood cells]] and [[platelets]] found in blood. The [[CBC]] is normal in people with hemophilia. However, if a person with hemophilia has unusually heavy bleeding or bleeds for a long time, the hemoglobin and the red blood cell count can be low.
===Activated Partial Thromboplastin Time (APTT) Test===
This test measures how long it takes for blood to clot. It measures the clotting ability of factors VIII (8), IX (9), XI (11), and XII (12). If any of these clotting factors are too low, it takes longer than normal for the blood to clot. The results of this test will show a longer clotting time among people with hemophilia A or B.
===Prothrombin Time (PT) Test===
This test also measures the time it takes for blood to clot. It measures primarily the clotting ability of factors I (1), II (2), V (5), VII (7), and X (10). If any of these factors are too low, it takes longer than normal for the blood to clot. The results of this test will be normal among most people with hemophilia A and B.
===Fibrinogen Test===
This test also helps doctors assess a patient’s ability to form a blood clot. This test is ordered either along with other blood clotting tests or when a patient has an abnormal [[PT]] or [[APTT]] test result, or both. [[Fibrinogen]] is another name for clotting factor I (1).
===Clotting Factor Tests===
[[Clotting factor]] tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity. It is important to know the type and severity in order to create the best treatment plan.
 
{| style="border: 0px; font-size: 90%; margin: 3px; width: 500px;" align=center
|valign=top|
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Condition}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Prothrombin time}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Partial Thromboplastin Time}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Bleeding Time}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Platelet Count}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hemophilia A or B
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Von Willebrand Disease
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged or Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Thrombocytopenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Vitamin K deficiency or Warfarin
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Normal or mildly prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Disseminated Intravascular Coagulation
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Liver failure, early
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Aspirin
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Liver failure, end-stage
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Pronlonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Uremia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Congenital afibrinogenemia
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor V deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor X deficiency as seen in amyloid purpura
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Glanzmann's thrombasthenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Bernard-Soulier syndrome
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor XII deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased or unaffected
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | C1INH deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Shortened
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #F5F5F5;" colspan=5| <small>Adapted from Wikipedia hemophilia Laboratory Finding> {{cite web|  url=https://en.wikipedia.org/wiki/Haemophilia| title=Wikipedia Hemophilia Laboratory Finding  }}</small>
|}


==Laboratory Findings==
[[Medical laboratory|Laboratory]] findings consistent with the [[diagnosis]] of hemophilia include:
*Normal [[Prothrombin time|prothrombin time (PT)]]<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref><ref name="pmid17605969">{{cite journal |vauthors=Kamal AH, Tefferi A, Pruthi RK |title=How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults |journal=Mayo Clin. Proc. |volume=82 |issue=7 |pages=864–73 |date=July 2007 |pmid=17605969 |doi=10.4065/82.7.864 |url=}}</ref><ref>https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref><ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 |doi=10.12659/AJCR.908854 |url=}}</ref>
*Normal [[platelet]] count<ref name="pmid30568085">{{cite journal |vauthors=Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K |title=[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis] |language=Japanese |journal=J. UOEH |volume=40 |issue=4 |pages=331–337 |date=2018 |pmid=30568085 |doi=10.7888/juoeh.40.331 |url=}}</ref>
*Reduced [[Red blood cell|red blood cell (RBC)]] count and hemoglobin level<ref>Centers for Disease Control and Prevention. Hemophilia Diagnosis. http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref><ref name="pmid30651844">{{cite journal |vauthors=Xu L, Chen J, Zhou X, Wu L, Tong Y, Zhu N, Huang X, Zhang Z |title=Acquired hemophilia A presenting as progressive intra-abdominal hemorrhage, muscle hemorrhage and hemothorax postpartum: A case report and literature review |journal=Exp Ther Med |volume=17 |issue=1 |pages=633–638 |date=January 2019 |pmid=30651844 |pmc=6307365 |doi=10.3892/etm.2018.7031 |url=}}</ref>
*Prolonged [[Bleeding time|bleeding time (BT)]]<ref name="pmid3753724">{{cite journal |vauthors=Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J |title=Bleeding time in hemophilia A: potential mechanisms for prolongation |journal=J. Pediatr. |volume=108 |issue=2 |pages=215–8 |date=February 1986 |pmid=3753724 |doi= |url=}}</ref><ref name="pmid6791725">{{cite journal |vauthors=Eyster ME, Gordon RA, Ballard JO |title=The bleeding time is longer than normal in hemophilia |journal=Blood |volume=58 |issue=4 |pages=719–23 |date=October 1981 |pmid=6791725 |doi= |url=}}</ref>
*Elevated [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]]<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref><ref name="pmid17605969">{{cite journal |vauthors=Kamal AH, Tefferi A, Pruthi RK |title=How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults |journal=Mayo Clin. Proc. |volume=82 |issue=7 |pages=864–73 |date=July 2007 |pmid=17605969 |doi=10.4065/82.7.864 |url=}}</ref><ref name="pmid30568085">{{cite journal |vauthors=Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K |title=[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis] |language=Japanese |journal=J. UOEH |volume=40 |issue=4 |pages=331–337 |date=2018 |pmid=30568085 |doi=10.7888/juoeh.40.331 |url=}}</ref><ref>https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref><ref name="pmid30473893">{{cite journal |vauthors=Gamage M, Weerasinghe S, Nasoor M, Karunarathne AMPW, Abeyrathne SP |title=Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A |journal=Case Rep Hematol |volume=2018 |issue= |pages=6208597 |date=2018 |pmid=30473893 |pmc=6220402 |doi=10.1155/2018/6208597 |url=}}</ref><ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 |doi=10.12659/AJCR.908854 |url=}}</ref>
*Bethesda assay indicating the presence of [[antibodies]] against [[factor VIII]]<ref name="pmid30653138">{{cite journal |vauthors=Qian L, Ge H, Hu P, Zhu N, Chen J, Shen J, Zhang Y |title=Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report |journal=Medicine (Baltimore) |volume=98 |issue=3 |pages=e14119 |date=January 2019 |pmid=30653138 |doi=10.1097/MD.0000000000014119 |url=}}</ref><ref name="pmid23546724">{{cite journal |vauthors=Duncan E, Collecutt M, Street A |title=Nijmegen-Bethesda assay to measure factor VIII inhibitors |journal=Methods Mol. Biol. |volume=992 |issue= |pages=321–33 |date=2013 |pmid=23546724 |doi=10.1007/978-1-62703-339-8_24 |url=}}</ref>
*Normal [[fibrinogen]] level<ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 |doi=10.12659/AJCR.908854 |url=}}</ref><ref name="pmid30568085">{{cite journal |vauthors=Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K |title=[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis] |language=Japanese |journal=J. UOEH |volume=40 |issue=4 |pages=331–337 |date=2018 |pmid=30568085 |doi=10.7888/juoeh.40.331 |url=}}</ref>


==References==
==References==

Latest revision as of 19:29, 31 May 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]

Overview

Laboratory findings consistent with the diagnosis of hemophilia include normal prothrombin time (PT), prolonged activated partial thromboplastin time (aPTT), prolonged bleeding time (BT), and normal platelet count.

Laboratory Findings

Laboratory findings consistent with the diagnosis of hemophilia include:

References

  1. 1.0 1.1 Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A (July 2018). "Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia". Indian Pediatr. 55 (7): 582–590. PMID 30129541.
  2. 2.0 2.1 Kamal AH, Tefferi A, Pruthi RK (July 2007). "How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults". Mayo Clin. Proc. 82 (7): 864–73. doi:10.4065/82.7.864. PMID 17605969.
  3. https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  4. 4.0 4.1 4.2 Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R (May 2018). "Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature". Am J Case Rep. 19: 582–588. doi:10.12659/AJCR.908854. PMC 5993004. PMID 29780157.
  5. 5.0 5.1 5.2 Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K (2018). "[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis]". J. UOEH (in Japanese). 40 (4): 331–337. doi:10.7888/juoeh.40.331. PMID 30568085.
  6. Centers for Disease Control and Prevention. Hemophilia Diagnosis. http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  7. Xu L, Chen J, Zhou X, Wu L, Tong Y, Zhu N, Huang X, Zhang Z (January 2019). "Acquired hemophilia A presenting as progressive intra-abdominal hemorrhage, muscle hemorrhage and hemothorax postpartum: A case report and literature review". Exp Ther Med. 17 (1): 633–638. doi:10.3892/etm.2018.7031. PMC 6307365. PMID 30651844.
  8. Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J (February 1986). "Bleeding time in hemophilia A: potential mechanisms for prolongation". J. Pediatr. 108 (2): 215–8. PMID 3753724.
  9. Eyster ME, Gordon RA, Ballard JO (October 1981). "The bleeding time is longer than normal in hemophilia". Blood. 58 (4): 719–23. PMID 6791725.
  10. https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  11. Gamage M, Weerasinghe S, Nasoor M, Karunarathne A, Abeyrathne SP (2018). "Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A". Case Rep Hematol. 2018: 6208597. doi:10.1155/2018/6208597. PMC 6220402. PMID 30473893. Vancouver style error: initials (help)
  12. Qian L, Ge H, Hu P, Zhu N, Chen J, Shen J, Zhang Y (January 2019). "Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report". Medicine (Baltimore). 98 (3): e14119. doi:10.1097/MD.0000000000014119. PMID 30653138.
  13. Duncan E, Collecutt M, Street A (2013). "Nijmegen-Bethesda assay to measure factor VIII inhibitors". Methods Mol. Biol. 992: 321–33. doi:10.1007/978-1-62703-339-8_24. PMID 23546724.

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