Laboratory tests to check for Carrier Diagnosis

Two kinds of laboratory tests can be performed for carriers of hemophilia: factor assays and genetic tests. Factor assays measure the amount of clotting factor in a person’s blood. While this information is useful, some carriers will have normal clotting factor levels. Therefore, this test has the potential to provide falsely reassuring or incorrect information to women who may indeed be carriers; it cannot be used to confirm whether a woman is a carrier of hemophilia. Factor levels can vary significantly among family members. For example, a woman with very low factor levels can have a daughter whose levels are near normal. Factor assays should therefore be done for each known or suspected carrier within a family. Stress, inflammation, infections, certain medications, birth control pills, and pregnancy can all cause factor VIII levels to rise and therefore affect test results. Factor VIII levels also tend to go up as people get older.Genetic tests such as mutation analysis look directly for the altered gene that’s responsible for hemophilia. This is the only way to be absolutely sure that a woman is a carrier. Information obtained from these tests is also more revealing for other family members. However, genetic tests can be costly and may not be available in all centres.

source: http://www1.wfh.org/publication/files/pdf-1471.pdf

Carrier Diagnosis

There are two types of carriers: obligate carriers and possible carriers. Obligate carriers necessarily have the hemophilia gene, which they inherit from their father. Obligate carriers can be identified by getting a detailed family history (known as a pedigree).

Obligate carriers are:

• All daughters of a father with hemophilia; 
• Mothers of one son with hemophilia and who have at least one other family member with hemophilia (a brother, maternal grandfather, uncle, nephew, or cousin);
• Mothers of one son with hemophilia and who have a family member who is a known carrier of the hemophilia gene (a mother, sister, maternal grandmother, aunt, niece, or cousin)
• Mothers of two or more sons with hemophilia.

Possible carriers are: 

• All daughters of a carrier
• Mothers of one son with hemophilia but who do not have any other family members who have hemophilia (or are carriers)
• Sisters, mothers, maternal grandmothers, aunts, nieces, and female cousins of carriers.

Many carriers, even obligate carriers, are unaware of their status

Whats new for our Hemophilia Day 2014?

Heres the updates:

Blood donation 

• Blood donation will be held on 14th May and 15th May 2014. 
• Location - Auditorium Perdanasiswa / Auditorium KPS, University of Malaya 
• Save the date everyone! You may ask your friend, relatives and anyone to come and help us by donating your bloods.

If you did not know where is Auditorium Perdanasiswa, you can refer to this map:

An Inspirational Story about Hemophilia Patient

Barry is an avid cyclist and advocate for hemophilia awareness from Houston, Texas, who is living successfully with severe hemophilia A.
“As a child with hemophilia (in the pre-factor era), I was not able to be athletic at all. When factor concentrates came along, that made life a lot better. I used on-demand to treat my bleeding episodes for years, but as I started getting more and more active, my bleeds became more frequent. Now that I am on a prophylactic treatment schedule, it has substantially lowered my ABR.
“Keeping in shape has also helped a lot with my energy level. Despite all the medical conditions I have to live with, I have been able to continue to work full-time and fully pursue my hobbies, too. I was able to take up cycling in a competitive way, which was a lot fun because I wasn't able to do that as a young person.
“Cycling has always been a symbol of perseverance. When I'm out on the open roads on my bike, I don't think about having hemophilia. I feel just like anybody else. I don't let hemophilia define who I am. I would like to be defined as someone who overcame challenges presented in life. I feel that with the dosing schedule and the medications that I have today, I can continue with my passion for cycling competitively.
“For me, the greatest benefits of prophylaxis treatment are that it has substantially reduced my annual bleed rate and it helps me to maintain a normal activity level. I think that, without a doubt, this is a hopeful time for people with hemophilia A. We have therapy options today that allow people to define their own True Identity.”


“To share your weakness is to make yourself vulnerable; to make yourself vulnerable is to show your strength.”   - Chris Jamy

Never feel shame to share your past to other, it will make you stronger :)

Story are from this website: Find more real stories there!!!
 http://www.yourtrueid.com/realStories_blog_barry.html

Haemophilia Song From Singapore

A member of Society of Hemophilia Singapore, David Foo created a song which show how the Hemophilia patient thought and illustrate their feeling. The song bring faith and power to them for fighting the disease, here is the lyrics: 

Everyday as the world unfolds
We can see we are not alone
Hand in hand, everyone, we stand
Firm with no regrets

Though at times, we say life is unfair
At times we just can’t go on
Then again, just a few steps away
We witness a ray of hope

So be strong, let us carry on
To live a life worth living for
Traveling on with our hearts as one
Never letting go

 

 No only for Hemophilia patients, for the ordinary people, like us, we should also have to be strong, do not lose hope and acquire a fighting spirit, to fight for our life. Hope this song will bring a positive power to you all :) 

Origin:You can listen the song from here
http://haemophilia.org.sg/?page_id=20

"The Royal Disease" - Haemophilia

 In the past, the first case describe by a medical professional of Haemophilia was in tenth century, the medical professional which is Abu al-Qasim al-Zahrawi, stated that a family that man died of bleeding after only minor trauma. Other than that, Britain's Queen Victoria also suffered of Haemophilia. Not only Queen Victoria, some of her daughters and sons also suffered too. Her daughters, Princess Alice and Princess Beatrice passed the mutation to various royal families in Spain, Germany, and Russia via royal marriage. As majority of the royal families in Europe suffered of Haemophilia, the people called this disease "The Royal Disease". However, in the modern age no living member of those royal families is known to have the symptoms of Haemophilia, the last of Victoria known to suffer from the disease was Infante Don Gonzalo, born in 1914, although dozens of descendants of Queen Victoria's (including males descended only through females) have been born since 1914. However, because the haemophilia gene usually remains hidden in females who only inherit the gene from one parent, and female descendants of Victoria have left many descendants in royal and noble families, there remains a small chance that the disease could appear again, especially among the female-line Spanish descendants of Princess Beatrice.Infanta Beatríz's two sons were not affected by the disease. Beatriz's eldest daughter, Sandra, has two children, a son and daughter. Her son is not affected, and her daughter has two sons, who are apparently unaffected. Beatríz's youngest daughter, Olimpia, had six children; her two eldest daughters, Beatrice and Sibilla are both married with children, none of whom, in the case of their sons, appear to be haemophiliacs. If Sibilla's descendants were to express or transmit the gene, however, another reigning dynasty of Europe would, in the 21st century, join the rest of the reigning families that inherited the disease from Queen Victoria. Olimpia's youngest daughters are still unmarried, but there is still a chance they could be carriers. Another daughter, Laura, died as a child, as did her only son, Paul, the latter of whom was apparently not a haemophiliac. Infanta Maria Cristina had four daughters, all potential carriers. Her eldest daughter, Vittoria Eugenie, had a daughter and three sons, the latter all apparently unaffected. The Infanta's second daughter, Giovanna, had only one child, an unaffected son. Her two youngest daughters, Donna Maria Teresa and Donna Anna Sandra, also have only daughters. Of these, only one, Maria Teresa's second daughter, Isabel, is married, but she also has only a daughter. There is a chance the disease may remain in this branch of Princess Beatrice's descendants.

Treatment for Hemophilia / Haemophilia

Up to a few decades ago a considerable proportion of patients with hemophilia died prematurely because of hemophilia. Tragically, many deaths were the result of childhood injury or surgery. Over the last forty years treatment has advanced so much that the vast majority of patients today are expected to live long and active lives.

The main breakthrough in treatment occurred when coagulation factor deficiencies linked to hemophilia could be identified and then replaced, using products derived from human blood.
In the past patients used to receive whole blood or plasma infusions to control episodes of bleeding. Even though this helped, levels of clotting factors, especially factors VIII and IX, never reached the levels required for really effective blood coagulation, nor could these levels be sustained - in other words, serious bleeding was only partly treated.

Cryoprecipitate, made through the cold precipitation of frozen plasma from1965 onwards, was the first really effective treatment for hemophilia A. Freeze-dried concentrates made from human plasma containing the right levels of Factors VIII and IX became available in the late 1960s and early 1970s. Being able to keep the treatment at home and use it as required meant that patients could travel, leave the home, go to work, and enjoy a level of independence. However, a large number of patients subsequently became infected with blood-borne pathogens, such as hepatitis B, hepatitis C and HIV.

From the mid 1980s rigorous donor selection and viral inactivation procedures reduced the risk of blood-borne viral transmission to nearly zero. During the 1990s it became possible to prepare synthetic (recombinant) factors, using specially prepared mammalian cells and these recombinant concentrates are now widely used.

Hemophilia treatment will mainly depend on its severity and for patients with Hemophilia A or B involves clotting factor replacement therapy. There are two approaches:

• On demand - giving treatment to stop prolonged bleeding when it occurs. This is more common in the management of patients with mild hemophilia.
• Preventative treatment (prophylaxis) - medication to prevent bleeding episodes, and subsequent complications, such as joint and/or muscle damage. More commonly used for patients with moderate or severe hemophilia.

Clotting factor concentrates

Clotting factor concentrates can be made in two different ways:

• Plasma-derived clotting factors - prepared from the plasma of donated human blood.
• Recombinant clotting factors - the first generation of recombinant products use animal products in the culture medium and had human albumin (a human blood product) added as a stabiliser. Second generation products use animal-derived materials in the culture medium but do not have added albumin and instead use sucrose or other non-human derived material as a stabiliser. Third generation clotting factors have no albumin present at any stage of their preparation. Mouse monoclonal antibodies have been routinely used in the purification of coagulation factors for many years but a recently licensed recombinant factor VIII employs a synthetic ligand for this step. This has resulted in the production of the first factor VIII concentrate to be free of all exogenous human and animal protein, a goal which was reached for hemophilia B when the first recombinant factor IX was licensed in 1997.

Desmopressin (DDAVP)(for mild hemophilia A)

This medication is a synthetic hormone which encourages the body to produce more of its own Factor VIII. It is unsuitable for patients with hemophilia B and those with severe hemophilia A. In patients with milder forms of hemophilia A, factor VIII replacement therapy may be necessary, especially for severe bleeds, or after serious injury or major surgery.

RICE (Rest, Ice, Compression, Elevation)

RICE is a treatment many health care professionals recommend for joint bleeds. It also reduces swelling and tissue damage when used together with clotting factor concentrates.

Administering clotting factor concentrates

The medication is injected into a vein - generally in the back of the hand or at the crook of the elbow. Initial treatments are usually administered by a doctor or nurse at a hospital or clinic. Most adults can learn how to do this themselves, which means they can stop bleeding rapidly and effectively wherever they are.

If the patient is a child the parents or caregivers (UK/Ireland/Australia: carers) can learn how to administer treatment. The majority of very young patients can receive most of their treatment at home.

If a patient is finding it hard to access a suitable vein, or if intensive treatment is required, a port-a-cath, or an external catheter called a Broviac or Hickman line can be placed surgically into a vein, allowing factor replacement therapies to be given, and blood to be drawn easily for routine emergency tests. The use of such catheters can be complicated by infection and blockage and they have to be used with great care.

Treating bleeds

Bleeding episodes (bleeds) are an inevitable complication for patients with hemophilia A and B, even for patients with mild forms. As the underlying problem is one of prolonged bleeding, rather than rapid bleeding, they often appear not to be medical emergencies.

If a person with hemophilia experiences any of the following he should seek immediate skilled medical help:

• There is an injury to the neck, mouth, tongue, face or eye.
• There is a severe blow to the head.
• Bleeding is heavy or persistent.
• There is severe pain or swelling in any part of the body.
• An open wound requires stitching.

Most other bleeds, such as joint/muscle bleeds, small injuries and cuts that do not require stitches, and nosebleeds are generally treated at home, but patients should always seek the advice of a healthcare professional when in doubt. Any treatment will be more effective if it is started early.

Storing treatment

Factor concentrates should usually be stored in a refrigerator but are stable at room temperature for quite long periods. They should not be frozen as this may damage the vials or syringes. Some may be taken out for travel but should ideally be kept in a cool bag. Read instructions on product storage. If you are unsure, check with a health care professional or qualified pharmacist.

Inhibitors

Approximately 30% of people with severe hemophilia A develop antibodies to transfused factor VIII, usually shortly after their first few treatments. These antibodies (also called inhibitors) prevent the factor VIIII treatment working properly. It is often the case that, after a while, the inhibitors disappear and only about 10% or less of people with severe hemophilia A will suffer from long term inhibitors. In recent years it has become possible to prevent inhibitors becoming persistent through immune tolerance induction therapy. Where inhibitors do not respond to this approach alternative treatments are available.

Inhibitors rarely develop in mild hemophilia A or in hemophilia B of any severity.

Types of Hemophilia

Hemophilia A and Hemophilia B

There are two main types of hemophilia - Hemophilia A (due to factor VIII deficiency) and Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery.

After repeated bleeding episodes permanent damage may be caused to the joints and muscles that have been affected, particularly the ankles, knees and elbows.

Approximately 1 in 5,000 males is born with Hemophilia A, and 1 in 30,000 males is born with Hemophilia B. Hemophilia affects people of all races and ethnic origins globally. The conditions are both X-linked and virtually all sufferers of hemophilia are males. Female carriers may also bleed abnormally, because some have low levels of the relevant clotting factor.

People with hemophilia have a genetic mutation in the affected gene on the X chromosome, which results in reduced production of Factor VIII or IX and creates a bleeding tendency, because coagulation takes much longer than normal, thus making the clot weak and unstable

Approximately one third of patients with hemophilia have no family history of the disease, either because of new genetic mutations, or because previous affected generations either had daughters (who were carriers) or sons who died in early childhood from hemophilia or any other cause or who were not affected.

Acquired Hemophilia

This is very rare. The patient develops the condition during his/her lifetime and it does not have a genetic or heritable cause. It occurs when the body forms antibodies that attack one or more blood clotting factors, (usually factor VIII), thus preventing the blood clotting mechanism from working properly. Patients may be male or female and the pattern of bleeding is rather different from that of classical hemophilia, the joints being rarely affected. The disorder is particularly associated with old age and occasionally complicates pregnancy.

About Hemophilia Society of Malaysia

The Hemophilia Society of Malaysia (HSM) is a not-for-profit organization working to provide and improve treatment for people with hemophilia and other inherited bleeding  disorders. It is a member of the World Federation of Hemophilia.

HSM has a reputation in assisting people with hemophilia through the expertise and dedication of a skilled and innovative workforce which consists of 100% volunteers.

Annually, HSM organizes workshops and outreach programmes across all the 14 states in Malaysia and offers services to the entire bleeding disorders community. They work collaboratively with healthcare providers, people with hemophilia and other inherited bleeding disorders, government and regulators, and pharmaceutical industry.

For more info, please visit their website at www.hsm.org.my

Factor that causes hemophilia

A person either inherits the gene or a mutation occurs (sporadic haemophilia) that causes one to have this condition. Take note here that one can have hemophilia even if his or her parents do not suffer from this condition due to a mutation.

TThe haemophilic gene occurs only in the X chromosome. Since the X chromosome decides the gender, it is also called as a sex-linked disorder.

Case 1 : The father has the haemophilia gene while the mum does not have. The son will not have the gene, but the daughter will. The daughter is called as carrier.

Case 2 : The father do not have the hemophilia gene while the mum has it. Every son will have 50% chance to suffer from this disease and 50% chance for the daughter to carry the gene.

Case 3 : The father has hemophilia and the mum is a carrier. There will be 50% chance the son will be hemophiliac; 50% chances that the daughter will be a carrier & 50% chance the daughter is a hemophiliac as well.

There is also some after-born hemophilia, but it can be solved via treatments.