About Careers Internship MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Hemophilia

Last Updated on Sep 19, 2016
Font : A-A+

Hemophilia

Hemophilia is a rare single gene, X- linked disorder, which tends to run in families.

Advertisement

To be pronounced as –‘heem-o-FILL-ee-ah’

In this bleeding condition, clotting of blood fails to take place in a normal manner. Following an accident, hemophilics suffer excessive bleeding, as it takes longer to heal, in comparison to normal individuals. This is due to a faulty clotting mechanism. Internal bleeding may also occur leading to organ damage, which may ultimately prove fatal.

Hemophilia is a condition, which only affects the males because it is an X-linked disorder. Males have only one X chromosome on which they carry a single copy of the Hemophilia gene, unlike the females who have two X chromosomes. If a mutant copy of the hemophilia gene is present, then males develop the disease. Women on the other hand, are non-symptomatic carriers.

Halitosis

Hemophilia-Pattern Of Inheritance

Incidence

Hemophilia A is known to affect one in every 5000 males. Hemophilia B occurs in one out of every 25-30 thousand male births. In the United States 18,000 people have hemophilia.

Causes

Due to an inherent gene defect, individuals with hemophilia are born with little or no ‘clotting factors’. These are proteins that are vital for blood clotting.

Hemophilia can also be acquired during a person’s lifetime when antibodies are developed against these clotting factors.

Advertisement

There are two types of hemophilia. In individuals with Hemophilia A there is very low amount of, or a complete absence of, a clotting factor VIII, while in those with Hemophilia B, there is an absence of clotting factor IX. In the case of Hemophilia C, there is an absence or very little of the clotting factor-XI. When an injury occurs, platelets play a lead role in stopping the blood flow. These platelets are joined together with the help of the clotting factors. So an insufficient quantity or absence of these factors will prevent clotting.

Clinical features

There are three different types of hemophilia, depending on the amount of clotting factors present involved. The disease can be classified as mild, moderate or severe depending on the amount of protein present. Seven out of every ten hemophiliacs suffer from the severe type of disorder.

a) Mild:

  • 5 to 40 % of normal clotting factor. A mild bleeding present.

b) Moderate:

  • 1 to 5 % of normal clotting factor. Heavy bleeding following injury

c) Severe:

  • 1% of normal clotting factor. Spontaneous bleeding in skin, joints and muscles

Bruising usually involves the ankle, knees, hips, and elbows and intra cranial bleeding.

Treatment

There is no cure for hemophilia. Treatment involves supplying the deficient clotting factor though infusion. If the patient stops responding to treatment after a period of time, then the dose of the factor administered needs to be increased or, alternatively, non-human factors should be tried. Recombinant, genetically- engineered products can also be administered to patients who are refractory.

Advertisement

People who suffer from hemophilia are recommended to do certain exercises pertaining to the elbows, knees and ankles. They can even do certain specific exercises that can bring relief to their joints, on a regular basis.

Genetic Testing for hemophilia:

If the mother is a known carrier, Chorionic Villi sampling or amniocentesis can be done to determine the sex of the child. Clotting factor assay can be carried out using umbilical cord blood assay. The parents can then take an informed decision regarding continuation of pregnancy depending on whether the child is a male or a female.

Bleeding is the most important sign for hemophilia. In children or in adults, showing abnormal bleeding coagulation tests to detect and confirm the absence of coagulation factors and also to assess the type of hemophilia. Other forms of genetic tests with an increased specificity can also be done to confirm the diagnosis, if required.

Latest Publications and Research on Hemophilia

Citations   close

Please use one of the following formats to cite this article in your essay, paper or report:

  • APA

    Dr. Reeja Tharu. (2016, September 19). Hemophilia - Causes - Treatment - Genetic Testing - Support Groups. Medindia. Retrieved on Sep 27, 2022 from https://www.medindia.net/patients/patientinfo/hemophilia.htm.

  • MLA

    Dr. Reeja Tharu. "Hemophilia - Causes - Treatment - Genetic Testing - Support Groups". Medindia. Sep 27, 2022. <https://www.medindia.net/patients/patientinfo/hemophilia.htm>.

  • Chicago

    Dr. Reeja Tharu. "Hemophilia - Causes - Treatment - Genetic Testing - Support Groups". Medindia. https://www.medindia.net/patients/patientinfo/hemophilia.htm. (accessed Sep 27, 2022).

  • Harvard

    Dr. Reeja Tharu. 2021. Hemophilia - Causes - Treatment - Genetic Testing - Support Groups. Medindia, viewed Sep 27, 2022, https://www.medindia.net/patients/patientinfo/hemophilia.htm.


Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Advertisement
Recommended Reading
Advertisement
Health Topics A - Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z



    Advertisement
    What's New on Medindia
    Anemia among Indian Women and Children Remains a Cause of Concern- National Family Health Survey-5
    H1N1 Influenza Prevention in Children: What Parents Need to Know
    Dietary Factors Responsible for Dihydrotestosterone (DHT) Production and Hair Loss
    View all

    Medindia Newsletters Subscribe to our Free Newsletters!
    Terms & Conditions and Privacy Policy.

    Most Popular on Medindia

    Iron Intake Calculator Blood Donation - Recipients How to Reduce School Bag Weight - Simple Tips Nutam (400mg) (Piracetam) Daily Calorie Requirements Find a Hospital Selfie Addiction Calculator Sanatogen Drug Side Effects Calculator Pregnancy Confirmation Calculator
    This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use