Tests for Hemophilia Diagnosis and Management

Hemophilia

Hemophilia or Haemophilia is a rare genetic blood disorder in which blood does not clot properly. It affects males more but there are females who also have hemophilia. It affects 1 in 5000 male births. Since it is an inherited condition, the best way to prevent this condition is to ensure that those with history of hemophilia go through pre-conception screening.

Submitted by dr.lavleen.hea… on 12 April 2024

Graphic image signifying hemophilia with the text hemophilia and Diagnosis and Tests on blue strip

Below mentioned tests are conducted for diagnosis of Hemophilia:

Complete Blood Count (CBC) – It measures the amount of hemoglobin, and the size and number of red blood cells, white blood cells and platelets.
Bleeding time test – It is used to access the time for a small incision to stop bleeding. 2 to 9 minute is the normal bleeding time.
Activated Partial Thromboplastin Time (aPTT) – It measures the time for blood to clot. 25 to 35 second is the normal time.
Clotting factor test – It is used to determine the severity of clotting factors.
Genetic testing – three types of genetic testing are done to identify specific gene mutations.
(i) Diagnostic testing – It is used to check specific gene mutations to determine the type of Hemophilia.
(ii) Carrier testing – It determines if a person carries a mutated gene for Hemophilia.
(iii) Prenatal testing – It is used to diagnose Hemophilia in the fetus during pregnancy.

Changed

05/May/2024

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Prevention of Hemophilia

While Hemophilia can’t be prevented, as it is a genetic disease. However, pre-conception screening in families with history of hemophilia, early diagnosis and appropriate management can significantly improve outcomes. Here are some preventive steps to limit the frequency and severity of bleeding in Hemophilia. Avoid exercises, sports or activities that place excessive strain on the joints to protect joints, as any minor trauma can lead to bleeding in patients. Regular medical checkups and…
Management of Hemophilia

Hemophilia management requires a team approach. Make sure you put together the right team to support hemophilia related care. For managing chronic pain and bleeding episodes in Hemophilia, collaboration between Hematologists, Pain specialists, Physical therapists and Mental health professionals for proper care with holistic approach. Managing joint health, preventing long term damage and addressing pain associated with bleeding episodes is crucial in this condition. Use of joint braces…
Treatment of Hemophilia

The various treatment approaches used for Hemophilia are: Replacement therapy – Missing clotting factors are replaced in the blood. Blood factor concentrates made from donated blood or Recombinant clotting factor (Lab made) are given via IV infusion. This therapy is used in severe Hemophilia cases to prevent bleeding episodes. Emicizumab (monoclonal antibody) is a drug approved for pediatric and adult patients. It helps in preventing bleeding episodes. Desmopressin – This hormone can…
Tests and Diagnosis of Hemophilia

Below mentioned tests are conducted for diagnosis of Hemophilia: Complete Blood Count (CBC) – It measures the amount of hemoglobin, and the size and number of red blood cells, white blood cells and platelets. Bleeding time test – It is used to access the time for a small incision to stop bleeding. 2 to 9 minute is the normal bleeding time. Activated Partial Thromboplastin Time (aPTT) – It measures the time for blood to clot. 25 to 35 second is the normal time. Clotting factor test – It is used…
Types of Hemophilia

Hemophilia is classified based on the deficiency of different clotting factors: Hemophilia A (Classic Hemophilia) – It is the most common type of condition. It occurs due to deficiency of clotting factors VIII. Hemophilia B (Christmas Disease) – It occurs due to deficiency of clotting factor IX. Hemophilia C – It occurs due to deficiency of clotting factors XI. Para hemophilia – It occurs due to clotting factor V deficiency. Based on the percentage of clotting factors and severity, Hemophilia…
Symptoms and Signs of Hemophilia

Symptoms of Hemophilia depend on the severity of the condition. Early detection is very important, as internal bleeding can be dangerous. Symptoms and signs of hemophilia include: Prolonged bleeding – Excessive bleeding can occur after injuries, surgeries, or dental procedures. It happens because of the absence of clotting factors required to stop bleeding. Fatigue and weakness – Chronic bleeding can lead to anemia, resulting in fatigue and weakness. Easy bruising – Large bruises can be…
Causes and Risk Factors of Hemophilia

Causes and Risk Factors of Hemophilia Hemophilia is often passed down from parents to children through the X chromosome. Mutations in either of the gene for the factor VIII protein or the gene for the factor IX protein leads to the low production of these clotting factors. This change in a copy of the gene that makes factor VIII or factor IX is called a Hemophilia allele. Both of these factors are found on the X chromosome. …
Overview of Hemophilia

What is Hemophilia Hemophilia is a rare genetic blood disorder in which blood clotting is impaired. This occurs because specific genes producing clotting factors VIII or IX are dysfunctional. As it is an inherited condition, signs often show up in early childhood. The main sign is excessive bleeding, occurring both externally from cuts and internally into joints or organs. Other signs include nose bleeding, easy bruising, and bleeding during or after surgery. Treatment includes administering…
Ensure Hemophilia Treatment at All Health Centres Through Partnership, Policy and Engagement

The theme for World Hemophilia Day this year is “Access for All: Partnership. Policy. Progress. Engaging your government, integrating inherited bleeding disorders into national policy”. By raising awareness and bringing hemophilia and other inherited bleeding disorders to the attention of policymakers, we can increase sustainable and equitable access to care and treatment. We speak with 4 leading voices committed to advocacy and education for hemophilia at the national level and dedicated to…
महिलाओं को भी हो सकता है हीमोफीलिया

डॉ अनुपमा पट्टियारी के परिवार में बहुत लोगों को हीमोफीलिया है। हालांकि कई लोगों का सोचना है कि हीमोफीलिया सिर्फ पुरुषों में होता है, डॉ अनुपमा को भी 32 साल की उम्र में हल्के हीमोफीलिया का निदान मिला था। आज, वे हीमोफीलिया वाले युवा और हीमोफीलिया(ब्लीडिंग डिसऑर्डर, रक्तस्राव विकार) वाली महिलाओं के समुदाय को प्राथमिक काउन्सलिंग देने में, शिक्षा देने में और उनके वित्तीय सशक्तिकरण में सक्रिय रूप से भाग लेती हैं। क्या आप हमें अपनी स्थिति के बारे में कुछ बता सकती हैं? मुझ में फैक्टर VIII (एक ऐसा…