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UNDERSTANDING HEMOPHILIA

Hemophilia is a hereditary, sex-linked blood disorder. It is marked by delayed clotting of the blood with prolonged or excessive internal or external bleeding after injury or surgery.¹

The etiology of hemophilia is well-documented. As we all know, blood has a specific type of protein- called clotting factors which helps in clotting to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the presence or absence and the number of factors in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur, leading to serious complications and even fatalities.^1,2

Hemophilia is inherited as an X-linked recessive trait in which the mother passes on a copy of the defective gene to a male child, and in rare cases, both parents pass on copies of the defective gene to a female child. A female with one affected X chromosome is a “carrier” of hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition, she can pass the affected X chromosome with the clotting factor gene mutation onto her children.^1,2 Though many cases are due to a newly acquired mutation in the genes, and in these families, no family history is present.³

There are two types of Hemophilia, Hemophilia A (Classic Hemophilia) and Hemophilia B (Christmas Disease). Patients with Hemophilia have low levels of factor VIII (8), and Hemophilia B patients have low levels of factor IX (9). It is important to know which factor is low so that the right treatment is given to the right patient.^2,3

Signs and symptoms of hemophilia differ depending on the number of clotting factors you have. Signs of hemophilia include bleeding of the mouth and gums; and bleeding that is hard to stop after losing a tooth. Unexplained and excessive bleeding from cuts or injuries, many large or deep bruises, unusual bleeding after vaccinations, pain, swelling, or tightness in your joints, blood in your urine or stool, nosebleeds without a known cause. In infants, unexplained irritability. In addition, if your clotting-factor level is mildly reduced- you might bleed only after surgery or trauma or the same goes unnoticed. However, if your deficiency is severe, your bleeding can be spontaneous, which might lead to severe complications.

Complications of hemophilia include: -

Deep internal bleeding- Bleeding which occurs in deep muscles may cause the limbs to swell. These swellings can press on nerves and lead to numbness or pain. Depending on the site of swelling and internal bleeding, it can be life-threatening also.
Bleeding into the throat or neck- This can affect a person's ability to breathe.
Damage to joints- Internal bleeding can put pressure on the joints, causing severe pain. If left untreated, frequent internal bleeding can cause arthritis or destruction of the joint.
Adverse reaction to clotting factor treatment- In patients with severe hemophilia, sometimes the immune system has a negative reaction to the clotting factors used to stop bleeding. In response to this, the immune system develops proteins that restrict the clotting factors from acting, thereby treatment less effective.

To diagnose hemophilia your physician will ask about your personal history and past medical history of bleeding (if any) and any family history related to bleeding disorders. History reveals whether you are genetically predisposed to having Hemophilia or not. Simultaneously, your general physician might perform a physical examination to evaluate the status of the joints. Early screening and the right diagnosis at right time are of paramount importance.

Dr. Dangs Lab has a series of blood tests to diagnose hemophilia. Types of screening tests available at DR. DANGS LAB are: -

Complete Blood Count (CBC)- This is a common test done to measure the amount of hemoglobin, the size and number of red blood cells (RBCs), and the number of different types of white blood cells (WBCs) and platelets found in the blood. The CBC is normal in people with hemophilia. However, if a person with hemophilia has unusually heavy bleeding or bleeds for a longer duration, the hemoglobin and the red blood cell count can be drop.⁴

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Activated Partial Thromboplastin Time (APTT) Test

This test measures how long it takes for blood to clot. A typical value for PTT is 28 to 37 seconds. If your blood takes a longer duration to clot than normal, it may be due to clotting factor deficiencies, liver diseases, DIC, Vitamin K deficiency, etc. The results of this test will show a longer clotting time among people with hemophilia A or B. If you get the test because you’re taking heparin, you’d want your PTT results to be more like 45 to 75 seconds.⁵

Prothrombin Time (PT) Test

A prothrombin time (PT) test measures the time it takes for blood to clot. An INR (international normalized ratio) is a type of calculation based on PT test results. Prothrombin is a protein made by the liver. It is one of several substances known as clotting (coagulation) factors. Clotting factor levels that are too low can cause you to bleed too much after an injury. Levels that are too high can cause dangerous clots to form in your arteries or veins. A PT/INR test helps find out if your blood is clotting normally. It also checks to see if the medicine that prevents blood clots is working the way it should.⁶ Other names: prothrombin time/international normalized ratio, PT time

Fibrinogen Test

The fibrinogen blood test is used to assess how well the protein called fibrinogen — also called coagulation factor I — performs in the blood and to measure its levels in your blood. The test is also called the factor I (fibrinogen), serum fibrinogen, and functional fibrinogen test. Fibrinogen is produced by the liver and is important for blood clotting. It is a protein that helps stop bleeding and support wound healing by forming clots at the site of bleeding wherever it is on your body.

Coagulation Factors Test

Coagulation factors are proteins in the blood that help control bleeding. We have several different coagulation factors in our blood, known by Roman numerals (I, II VIII, etc.) or by name (fibrinogen, prothrombin, hemophilia A, etc.). If any of your factors are missing or defective, it can lead to heavy, uncontrolled bleeding after an injury. Coagulation factor tests are blood tests that check the function of one or more of your coagulation factors.⁸

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Summary

Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the number of factors in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.
Publisher’s name- Dr. Dangs Lab

References :

Hemophilia. Available at
https://www.cdc.gov/ncbddd/hemophilia/facts.html, accessed on 2/3/22.
Mehta P, Reddivari AKR. Hemophilia. [Updated 2021 Dec 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK551607/
Haemophilia. Available at
https://www.nhp.gov.in/haemophilia_pg
Complete Blood Count. Available at
https://www.medicinenet.com/complete_blood_count/article.htm
Activated Partial Thromboplastin Time (APTT) Test. Available at
https://www.webmd.com/a-to-z-guides/partial-thromboplastin-time-test#:~:text=A%20typical%20aPTT%20value%20is,bleeding%20disorder%20to%20liver%20disease.
Prothrombin Time Test and INR (PT/INR). Available at
https://medlineplus.gov/lab-tests/prothrombin-time-test-and-inr-ptinr/#:~:text=A%20prothrombin%20time%20(PT)%20test,as%20clotting%20(coagulation)%20factors.
What is the fibrinogen test? Available at https://www.webmd.com/a-to-z-guides/what-is-fibrinogen-blood-test
Coagulation Factor Tests. Available
https://medlineplus.gov/lab-tests/coagulation-factor-tests/#:~:text=Coagulation%20factor%20tests%20are%20blood,hemophilia%20A%2C%20etc

Disclaimer: This content including advice provides generic information only. It is in no way a substitute for a qualified medical opinion.

Related Articles

Salen P, Babiker HM. Hemophilia A. [Updated 2021 Jul 21]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK470265/
Konkle, Barbara & Kessler, Craig & Aledort, L & Andersen, J & Fogarty, P & Kouides, Peter & Quon, D & Ragni, Margaret & Zakarija, A & Ewenstein, B. (2009). Emerging clinical concerns in the ageing haemophilia patient. Haemophilia : the official journal of the World Federation of Hemophilia. 15. 1197-209. 10.1111/j.1365-2516.2009.02066.x.1. https://www.researchgate.net/publication/26747570_Emerging_clinical_concerns_in_the_ageing_haemophilia_patient
Lopes, T.J.S., Rios, R., Nogueira, T. et al. Prediction of hemophilia A severity using a small-input machine-learning framework. npj Syst Biol Appl 7, 22 (2021). https://doi.org/10.1038/s41540-021-00183-9
Mehta P, Reddivari AKR. Hemophilia. [Updated 2021 Dec 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. https://www.ncbi.nlm.nih.gov/books/NBK551607/
Alshaikhli A, Rokkam VR. Hemophilia B. [Updated 2022 Feb 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. https://www.ncbi.nlm.nih.gov/books/NBK560792/
Media report (Haempohilia A and von Willebrand disease) (ICMR IN NEWS). https://main.icmr.nic.in/sites/default/files/IN-NEWS_Haemophilia.pdf
BLOOD SERVICES AND BLOOD DISORDERS. https://nhm.gov.in/index1.php?lang=1&level=2&sublinkid=1214&lid=498