Haemophilia?

Question

My results came back from the Haemophilic/Pathology department. I was sent there asd I complained of swollen ankles and scraing on my leg. My results have come back but I was told by my doctor to come into the surgery as I will need to be told or given something that I need to carry with me all the time. What could this be as I'm really worried now.

Answer 1

If you have a form of haemophilia the medication you need will be based on the type. The med to carry might be demopressin which sometimes helps clotting. Treatment would likely be one of the types of clotting factors absent in your form of haemophilia. It would be an extremely rare incident for a female to present with haemophilia as it is genetically linked to the sex chromosome. It normally presents in the male children of female carriers. The people will have one of generally 2 main types of the condition dependent which clotting factor is absent . Studies have not determined whether it is better to treat prophylactically or episodically, though prophylactic treatment seems to prevent more of the complications.

Prophylactic treatment of a child with haemophilia averages $300,000 US dollars per year (in studies).

Genetic counselling is a key here and most assuedly before reproduction. Also you need education on your condition. You also need to carry identification as a haemophiliac at all times (a medical alert bracelet or necklace) so it can be seen in an emergency.

EditXXXXXXX

Zoya is not actually correct. Females with the trait can present with low levels of the clotting factors which can result in issues. Again this is rare.

Answer 2

Genetic deficiencies and a rare autoimmune disorder may lower plasma clotting factor levels of coagulation factors needed for a normal clotting process. When a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation which is necessary to maintain the blood clot. Therefore, there is no increase in bleeding time with hemophilia because platelets are intact, allowing the formation of these temporary hemostatic plugs (clots). However, "late" bleeding is affected, because these hemostatic plugs are not able to be maintained.

The bleeding with external injury is normal, but incidence of late re-bleeding and internal bleeding is increased, especially into muscles, joints, or bleeding into closed spaces. Major complications include hemarthrosis, hemorrhage, Gastrointestinal bleeding, and menorrhagia.
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i think it's a genetic deficiencies wherein for example you got cut by a knife on your finger, they won't stop bleeding. People with this kind of deficiencies should be take care seriously.

Answer 3

Only by swallon kneedoesn't mean that u have hemophillia. This is inborm error of clotting mechanisim due to lack of factor VIII needed for clotting so on trival injuries a person bleeds & it cant be stopped quickly hence the replacement .
This is a diseases of MALES & women are only CARRIER of the disease & they dont have any symptoms . This is a sex linked disorder .

Answer 4

Bumps and scrapes are a part of every child's life. For most children, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a healing scab. But for children with hemophilia, these normal traumas of childhood are reason for extra concern.

Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in the United States have hemophilia. About one in every 8,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male can't pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia.

What Is Hemophilia?
Human blood contains special proteins, known as clotting factors. Identified by Roman numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an injury. The last step in the clotting process (also called coagulation) is the creation of a "net" that closes the torn blood vessel and stops the bleeding. This part of the process involves clotting factors VIII and IX. People with hemophilia are deficient in one of those factors due to their disease genes, and as a result, their blood can't clot properly.

Hemophilia A, also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B, which makes up the majority of the remaining 20% of cases, is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood.

Each case of hemophilia is unique. A patient whose blood tests suggest severe hemophilia may only bleed occasionally, whereas another patient with a milder form may bleed more often. The reasons for this variability may relate to other clotting factors or to differences in behaviors that present different risks of injury.

Signs and Symptoms
Signs and symptoms of hemophilia vary, depending on severity of the factor deficiency and the location of the bleeding. Few babies are diagnosed with hemophilia within the first 6 months of life because they're unlikely to sustain an injury that would lead to bleeding. For example, only about 30% of males with hemophilia bleed excessively when circumcised and only 1% to 2% of newborns with hemophilia have bleeding within the skull (called an intracranial hemorrhage).

Once babies with hemophilia begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. Sometimes, because bruises appear in unlikely places, parents may be suspected of child abuse before their child is diagnosed with hemophilia.

The baby may also be fussy and may not want to reach for a cup, walk, or crawl. Other symptoms include:

prolonged nosebleeds
excessive bleeding from biting down on the lips or tongue
excessive bleeding following a tooth extraction
excessive bleeding following surgery
blood in the urine (called hematuria)
The most common type of bleeding in hemophilia involves muscles and joints. A child with hemophilia will usually refuse to move the affected joint or muscle because of pain and swelling. Recurrent joint bleeding can also lead to chronic damage.

Diagnosis
Your child's doctor may suspect your child has hemophilia if there's a pattern of bruising and bleeding, particularly if this includes bleeding into the joint. Diagnosing the condition requires a set of blood tests, including a complete blood count (CBC), prothrombin time (PT), activated partial thromboplastin time (PTT), factor VIII level, and factor IX level.
Treatment
Although hemophilia is a lifelong condition with no cure, it can be successfully managed with clotting factor replacement therapy - periodic infusions of the deficient clotting factor into the child's bloodstream. Factor replacement may be given through an intravenous (IV) line either at the hematology clinic or at home by a visiting nurse or by parents (and even older patients) who have undergone special training. Your child's hemophilia team (doctors called hematologists who specialize in treating blood disorders, nurse practitioners, nurses, and social workers) will teach you how to prepare the concentrated clotting factor and when and how to inject it into your child's vein. Once the clotting factor is "infused," it begins to work quickly and helps prevent joint damage.

Although these treatments are effective, they are also expensive. According to the National Heart, Lung, and Blood Institute, most children in the United States who begin receiving regular infusions early in life will exhaust the average lifetime insurance limit of $1,000,000 by their second decade.

Between 14% and 25% of children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the clotting factor as a foreign substance and develop inhibitors that block its clotting action. This can make the hemophilia difficult to treat. One method for overcoming the inhibitors is to increase the body's tolerance to the clotting factor by carefully infusing increasing amounts of the clotting factor over time. Inhibitors to factor IX (hemophilia B) are less common.

Also, a new medication called recombinant factor VII has helped many patients with inhibitors. It activates another part of the coagulation process directly and bypasses the deficiencies.

Preventing Problems
You can help your child with hemophilia prevent problems by encouraging healthy behaviors now. For example, exercise can strengthen your child's muscles and help decrease bleeding from injuries. Swimming is strongly encouraged because it exercises all the muscle groups without putting stress on the joints.

Your child's weight should also be managed properly, because excess weight can cause strain in regions of the body. If your child is overweight, speak to your child's doctor for advice on weight management.

Medications can also help prevent problems in children within hemophilia. Many patients prevent "bleeds" by infusing clotting factors on a regular basis (usually two or three times per week). Some young children have a surgical procedure to implant a central venous catheter (a hollow, soft tube) into a vein. The catheter can be used to give concentrates of clotting factors.