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Causes and Diagnosis of Hemophilia

Causes and Diagnosis of Hemophilia

Hemophilia is a condition that hampers the clotting of blood, and mostly affects men. Plotting factors are proteins that work alongside platelets to stop the flow of blood whenever there is an injury. If a person is suffering from hemophilia, lower amounts of Factor VIII or Factor IX are produced than people without the condition. This results in excessive bleeding and internal bleeding. Read on to know the causes and diagnosis of hemophilia.

Causes of hemophilia
Hemophilia is caused when a very crucial process named ‘the coagulation cascade’ is hindered. The process is responsible for the clotting of blood as blood platelets coagulate and form a clot at the site of the wound. Thereafter, clotting factors work to position a permanent plug and stop the site of the wound. When the clotting factors are present in low quantity or absent, the bleeding continues for a longer duration.

Diagnosis of hemophilia
Different patients are diagnosed differently. Read on to know more.

  • Diagnosis of patients with a family history of hemophilia:
    If there’s a history of bleeding after surgery or injury in the family, the doctor will like to know if hemophilia is involved. If there’s a family history of hemophilia, parents often get male babies tested shortly after birth. One can also go for an umbilical cord blood test that is done immediately after birth. This way, factor VIII can be found easily, but factor IX can only be found later on, as it is developed over time.
  • Diagnosis of patients with no family history:
    One out of three patients has no family history of hemophilia. In such cases, doctors like to know a few things to diagnose the condition. For a newborn, the doctor will check if bleeding is unusual after circumcision, unstoppable bleeding after drawing blood, and if there’s bleeding in the head after a difficult delivery. The family might also notice unusual bruising when the baby starts standing or walking.
  • Screening tests
    Another important factor about the causes and diagnosis of hemophilia is screening tests. Tests include complete blood count or CBC test, Activated Partial Thromboplastin Time (APTT) Test, Prothrombin Time (PT) Test, and Fibrinogen Test. These tests help measure important aspects of a patient’s blood and clotting ability. Factor assays or clotting factor tests can also be conducted to understand the presence of clotting factors in the body. These tests help determine the severity of hemophilia as well.
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