Hemophilia (Genes & Disease)
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Investigators are still evaluating the long-term safety of these therapies, and it is hoped that a genetic cure for hemophilia will be generally available in the future. Turn recording back on.
Clotting factors are either given preventively or on-demand. A pregnant woman with a history of haemophilia in her family can test for the haemophilia gene. These activated platelets release chemicals that start the clotting cascade, activating the series of 13 proteins known as clotting factors. A blood test will also be able to identify whether a child has haemophilia A or B, and how severe it is. Neither appeared injured or sought immediate medical care and Gonzalo died two days later from internal bleeding. Symptoms include sudden severe headache, nausea, vomiting, loss of balance, tingling, numbness, vision changes, loss of consciousness, and loss of fine motor skills. National Library of Medicine".
National Center for Biotechnology Information , U. Related diseases See other Blood and Lymph Diseases. Genome view see gene locations Entrez Gene collection of gene-related information BLink related sequences in different organisms. Research articles online full text Books online books section OMIM catalog of human genes and disorders GeneReviews a medical genetics resource. National Hemophilia Foundation a nonprofit organization dedicated to finding cures for inherited bleeding disorders.
Most individuals are seen and tested by consultants who specialize in genetically linked diseases. What are treatments for hemophilia? The mainstay of treatment is replacement of the blood clotting factors. Clotting factor concentrates can be purified from human donor blood or made in the laboratory using methods that do not use donor blood.
This type of therapy is known as replacement therapy. Clotting factor replacement therapy is carried out by infusing the clotting factor concentrates into a vein, much like a blood transfusion. This type of therapy can be administered at home with proper instruction and training. Depending upon the severity of the condition, replacement therapy of the deficient clotting factor may be carried out on an as-needed basis called demand therapy or on a regular basis to prevent bleeding episodes known as prophylactic therapy.
This drug stimulates release of substances from platelets that help form the platelet plug. It is administered either slowly through the intravenous route IV or, occasionally, in nasal spray form.
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Pain relievers may be prescribed for symptom relief, but pain relievers other than aspirin or non-steroidal anti-inflammatory medications such as naproxen , ibuprofen must be used, since these types of drugs further inhibit the blood's ability to clot. Acetaminophen Tylenol and others is often given for pain relief. A major complication of treatment is the development of so-called inhibitors to the clotting factors. Inhibitors antibodies are produced because the body sees the factor concentrates used to treat patients to reduce or prevent bleeding, as foreign and activates an immune response in the patient to destroy the foreign substances factor VIII or factor IX.
Inhibitors to factor VIII are the most common and occur in about one-third of those with severe hemophilia A and about 1 out of every 50 people with mild or moderate hemophilia A.
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They typically develop in childhood in those with severe hemophilia A and later in life in milder cases. This is a serious complication of treatment because the factor concentrates are no longer effective in treating the condition. The action of inhibitors to destroy factor VIII concentrates shows different degrees of severity among individuals and can even vary over time in the same individual.
In about two-thirds of cases, the inhibitors disappear on their own or with treatment known as immune tolerance therapy ITT or immune tolerance induction ITI. In cases of severe hemophilia A with persistence of inhibitors, other factor concentrates, such as activated prothrombin complex concentrate or recombinant factor VIIa, are administered to attempt to help control bleeding. However, these can cause a very serious allergic reaction when factor IX concentrates are given.
Immune tolerance therapy to eliminate inhibitors is less successful than with hemophilia A. Blood-borne infections, such as the HIV virus and hepatitis B and C, were a major complication of treatment for hemophilia during the s. These infections were transmitted through the factor concentrates and other blood products that were used to treat hemophilia. The use of large blood donor pools to prepare factor concentrates and the lack of specific tests for infectious agents both contributed to the contamination of blood products used to treat hemophilia.
Today, improved screening and manufacturing practices including virus removing techniques as well as the development of recombinant factors have essentially eliminated this tragic complication of treatment.
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Can hemophilia be prevented? Hemophilia is a genetic inherited disease and cannot be prevented. Genetic counseling , identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with hemophilia.
What is the outlook prognosis for hemophilia? Before factor concentrates were developed, those with hemophilia had a significantly decreased life expectancy. Life expectancy before the s for those with severe hemophilia was limited to 11 years. Currently, the mortality death rate for males with hemophilia is twice that of healthy males. As mentioned before, the increase in HIV and hepatitis infections associated with therapy during the s led to a corresponding increase in death rates. Currently, prompt and adequate treatment can greatly reduce the risks of life-threatening bleeding episodes and the severity of long-term damage to joints, but joint deterioration remains a chronic complication of hemophilia.
What are possible future treatments for hemophilia? Multiple trials and studies are underway to examine the possibility to use gene therapy to replace the defective genes in hemophilia. To date, stable and sustained production of the deficient clotting factors has not been achieved in humans, but this is an area of active investigation that holds great promise for the future. Blood in the urine is termed hematuria.
Hematuria, whether it be gross or microscopic, is abnormal and should be further investigated. A brain hemorrhage is a type of stroke caused when an artery bursts in the brain, causing localized bleeding in the surrounding tissue. Causes of brain hemorrhage include aneurysm, liver disease, brain tumor, head trauma, high blood pressure, and blood vessel abnormalities.
Symptoms include sudden severe headache, nausea, vomiting, loss of balance, tingling, numbness, vision changes, loss of consciousness, and loss of fine motor skills. Treatment depends upon the cause, location, and size of the brain hemorrhage.
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities for example, Turner syndrome, and Klinefelter syndrome , and mitochondrial inheritance for example, epilepsy and dementia.
Hemophilia - Signs and Symptoms Patient Comments: Hemophilia - Diagnosis Patient Comments: Inhibitors Infections Can hemophilia be prevented? Take the Blood Disorders Quiz. Anemia Symptoms, Causes, Types, and Treatment.
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Picture of Pernicious Anemia. Readers Comments 3 Share Your Story. Readers Comments 1 Share Your Story. Centers for Disease Control. Each time a woman is pregnant, her chances of having a child with the hemophilia gene are the same Figure It is like rolling dice. The results of one roll do not affect the next roll. A family may have children with the hemophilia gene and children without it.
It is also possible for all the children in the family to inherit the normal gene or all to inherit the hemophilia gene. For a mother who carries the hemophilia gene, the chances of giving birth to a child with hemophilia are the same for each pregnancy. Even though she already has a child with hemophilia, she can still give birth to another. The father's sex chromosomes are labeled XY, with the X chromosome carrying the hemophilia gene. If the baby gets the Y chromosome from the father it will be a boy. Since the Y chromosome does not carry the hemophilia gene, a son born to a man with hemophilia and a woman who is not a carrier will not have hemophilia.
If the baby gets the X chromosome from the father it will be a girl. The X chromosome from the father with hemophilia will have the hemophilia gene. But the girl also gets an X chromosome from her mother.
Hemophilia
The normal blood clotting gene on the X chromosome from the mother is dominant, so the baby girl will not have hemophilia. She will, however, be a hemophilia carrier since she has the hemophilia gene on one of her X chromosomes. So in this case, all sons born to the couple will be normal and all daughters will be hemophilia carriers Figure Father with hemophilia; mother with normal blood clotting gene.
Follow the arrows to see the possible gene combinations. The father's sex chromosomes are labeled XY. The father only passes half of his sex chromosomes to the baby, either the X or the Y. The son can get from the mother either her X chromosome with the hemophilia gene or her X chromosome with the normal blood clotting gene.
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If the son gets his mother's X chromosome with the hemophilia gene he will have hemophilia. If he inherits his mother's other X chromosome, he will have normal blood clotting. A baby girl will inherit an X chromosome with a dominant gene for normal blood clotting from her father. So the daughter will not have hemophilia. A daughter will get either her mother's X chromosome with the hemophilia gene or her mother's X chromosome with the normal gene for clotting.
If she gets the X chromosome with the hemophilia gene she will be a carrier. A woman who is a carrier has:. Father with normal gene; mother a carrier. If the boy gets his mother's X chromosome with the hemophilia gene he will have hemophilia. The girl also gets an X chromosome from her mother. If she gets the normal X chromosome, the girl will be a carrier.