introduction

Haemophilia is an inherited bleeding disorder where one of the bloods clotting proteins is absent or present in a reduced amount. A diagnosis of haemophilia in you or your child can be a traumatic experience as your knowledge of haemophilia may be very limited or rooted in a past reality where adequate and safe treatment was not available. The good news is that such fears are unfounded. Current state of the art treatment for haemophilia is available .The life expectancy of a child born with haemophilia is essentially normal and their quality of life will be excellent. Haemophilia is a lifelong condition and it is important that you and your child learn about the condition in order to live in a positive manner with the condition. Information and education are vital. We hope this blog starts you on that road, and be assured that we will provide you informations be there to help you in every step of your journey to a healthy and normal life.

Haemophilia is an inherited condition that affects the blood's ability to clot.Normally, when you cut yourself, substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky. This makes the bleeding stop eventually.However, in haemophilia, there aren't as many clotting factors as there should be in the blood. This means that someone with the condition bleeds for longer than usual.The condition is passed to a child by one or both of their parents

Clinical features of Hemophilia

    

   Common symptoms of Hemophilia disorder:

 ü  Bleeding in muscles

ü   Frequent nosebleeds

ü   Bleeding in gastrointestinal tract

ü   Blood in stool

ü   Hematuria (blood in stool)

ü   Bleeding in joints associated with pain and swelling

ü   Deep bruises

patterns of inheritance for Hemophilia

Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sexchromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carrier females have about half the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough for normal blood clotting. However, about 10 percent of carrier females have less than half the normal amount of one of these coagulation factors; these individuals are at risk for abnormal bleeding, particularly after an injury, surgery, or tooth extraction.

The following diagrams show how the hemophilia gene can be inherited. It is important to note that in one-third of people with hemophilia, there is no family history of the disorder.

Mother is a carrier

• 50% chance that each son will have hemophilia.
• 50% chance that each daughter will be a carrier of the hemophilia gene.

Father has hemophilia

• All daughters will carry the hemophilia gene.
• No sons will have hemophilia.

Mother is a carrier AND
Father has hemophilia

• 50% chance that each son will have hemophilia.
• 50% chance that each daughter will be a carrier of the hemophilia gene.
• 50% chance that each daughter will have hemophilia.

complications of Hemophilia

   1)      JOINT DAMAGE

v    Joint damage or also called as Hemophilia Arthopathy is most common complication of  bleeding in hemophilia. Individuals with hemophilia can bleed into the joint space after an injury, at times or sometimes without any clear cause. Not only that, this joint damage may occur after repeated bleeding into the same joint or after serious bleeding at the joint. The blood filling pressure at the joint cavity which causes a symbolic pain that leads to chronic swelling and deformity.

The joint damage occurs in the cartilage of around the bones and also the synovium. When there is blood flowing in the joint, the synovium will absorbs it and the blood containing iron actually causes the lining of synovium to grow thicker. The bleeding will affect the cartilage around the bone area which has the smooth surface on the ends of the bones and allows both bones connecting each other to move without any friction. The rubbing of bones becomes more painful as the cartilage erodes and becomes pitted. Joints that bleed are usually referred to as “target joints” and as the join damage continues, the movement may become more restricted in that joint. The common symptoms when joint bleeds are swelling, pain, loss of motion, stiffness and tingling inside the joint.

   2)      INHIBITORS

v    Complications of bleeding in hemophilia may also arise from the inhibitors in the body. Inhibitors are antibodies that the immune system develops because of the infused clotting factors act as foreign substance that need to be destroyed. Besides that, an estimated of 20 to 30% of individuals are affected by inhibitors as result with severe hemophilia A. This is much likely to occur with mild or moderate hemophilia A approximately of 5 to 8%. About 2 to 3 % of individuals with hemophilia B develop inhibitors and hemophilia B is less common than hemophilia A. The risk factors to type and severity of hemophilia are family history of an inhibitor, age of exposure to factor product and gene mutation.

   3)      INFECTIONS

v    Infections are one of the complications of bleeding in hemophilia. Approximately 90% of individuals with severe hemophilia usually were infected with HIV (Human Immunodeficiency Virus), Hepatitis and blood-borne infections.

Diagnosis for Hemophilia

       I.  FAMILIES WITH A HISTORY OF HEMOPHILIA

If there is any family history of bleeding disorder for instance bruises, surgery or unexplained deaths among siblings or relatives should be considered and need to discuss with doctor to confirm if hemophilia was the cause. Besides that, those individuals who have or had family members with hemophilia will ask their baby boy to get examined soon after birth because this disorder has higher possibility to occur in males more than females. Not only that, in the best cases, testing for hemophilia is planned before the baby’s delivery so that a sample can be drawn from the umbilical cord blood immediately after birth. This sample will be tested to predict the level of clotting factors. Apart from this, the umbilical cord blood is better for testing hemophilia at determining low levels of factor VII (8) than it is finding low levels of factor IX (9). This is because the factor IX (9) levels will takes more time to develop and it is not at a normal level until a baby’s age about 6 months. 

    II.   FAMILIES WITH NO PREVIOUS HISTORY OF HEMOPHILIA

About 33.33% of babies who are diagnosed with hemophilia have no other family members with this type of disorder.

A doctor might do check up for hemophilia in a newborn if:

-         Unusual raised injuries (if a child is not diagnosed with hemophilia during newborn period, the family might noticed unusual bruising once the child started to crawl or stand).

-         Bleeding in the scalp or brain after a difficult delivery or after using special devices to help deliver of infant.

-         Bleeding goes on for a long period of time after drawing blood as a sample and pricking the infant’s heel to draw blood for neonates screening tests.

     A. TESTS DURING PREGNANCY

1) AMNIOCENTESIS

§       Is a medical procedure in which amniotic fluid is removed from the uterus for testing and usually during weeks of 15 to 20 of pregnancy.

§       This amniotic fluid contains the fetal cells and several types of chemicals produced by the baby.                                                                                                                 

 2)      CHORIONIC VILLUS SAMPLING (CVS)

§        Is a medical procedure in which sample of chorionic villi is removed from the placenta for testing usually during weeks of 10 and 13 of pregnancy.

§        The sample can be taken through the cervix called as the transcervical or the abdominal wall called as the transabdominal.

 B.   SCREENING TESTS

1)  COMPLETE BLOOD COUNT TEST

Ø  The most common test to measure the amount of hemoglobin, the number and size of erythrocytes and the number of different types of leukocytes with platelets found within blood plasma.

  

2) ACTIVATED PARTIAL THROMBOPLASTIN TIME (APTT) TEST

          Ø  This test helps to determine the ability for blood to clot.

          Ø  Examples of clotting factors are Factors VII (8), IX (9), XI (11) and XII (12).

          Ø  The blood clot may be affected by:

                      §  A change in the activity of any of the clotting factors.

                      §  Low levels of blood clotting factors.

                      §  The absence of any of clotting factors.

                      §  Other substances like inhibitors may affect the clotting factors.

                      §  An increase in the use of the clotting factors.

3) CLOTTING FACTORS TESTS

Ø This test is also known as factor assays which helps to predict the severity of Hemophilia.

SEVERITY	LEVELS OF FACTOR VII (8) OR FACTOR IX (9)
NORMAL	50%  TO 100%
MILD HEMOPHILIA	Greater than 5% but less than 50%
MODERATE HEMOPHILIA	1% to 5%
SEVERE HEMOPHILA	Less than 1%

Treatments for hemophilia

A.   Treatment With Replacement Therapy

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.

Clotting factor concentrates can be made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.

To further reduce the risk, you or your child can take clotting factor concentrates that aren't made from human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor.

You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.

B.   Other Types of Treatment

·         Desmopressin

Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A.

DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer.

DDAVP usually is given by injection or as nasal spray. Because the effect of this medicine wears off if it's used often, the medicine is given only in certain situations. For example, you may take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.

·         Antifibrinolytic Medicines

Antifibrinolytic medicines (including tranexamic acid and epsilon aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down.

These medicines most often are used before dental work or to treat bleeding from the mouth or nose or mild intestinal bleeding.

·         Gene Therapy

Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Gene therapy hasn't yet developed to the point that it's an accepted treatment for hemophilia. However, researchers continue to test gene therapy in clinical trials.

·         Treatment of a Specific Bleeding Site

Pain medicines, steroids, and physical therapy may be used to reduce pain and swelling in an affected joint. Talk with your doctor or pharmacist about which medicines are safe for you to take.

On every 17^th April World Hemophilia Day, the purpose is to raise awareness among society about Hemophilia and other bleeding disorders. On this day, people are encouraged to wear RED clothes to draw attention to the hemophilia cause. The patients groups worldwide have annually celebrated World Hemophilia Day (WHD) on 17^th April to increase awareness about this hemophilia and this date was chosen by the founder of Frank Schnabel in World Federation Of Hemophilia.

World Hemophilia Day 2017 : "HEAR THE VOICES"

World Hemophilia Day 2016 : "Treatment for all is the vision for all"

World Hemophilia Day 2015 : "Building of family support"

World Hemophilia Day 2014 : "Speak out. Create change"

World Hemophilia Day 2013: "50 years of Advancing Treatment for all"