3%) as opposed to African-Americans (1.1%) and Hispanic (1.2%). Asian populations appear to inherit the gene far less likely, about 1/4 of that of Caucasians. However, modern demographics result in marriage between ethnic types far greater than previous, and statistics show a blending to about 1% of most populations (Soucie, et.al., 1998.)
Abnormality -- as a genetic occurrence, hemophilia infects about 1 in 5,000 male births, but carried in another 5,000 female births. The disease is recessive in females (carried on X-chromosome). Thus, a carrier female has a 50% chance of passing on the defective X chromosome to her daughter, while a male who is affected will always pass on that defect to progeny.
Screening/Testing -- Genetic testing based on family history is the primary mechanism for discovering hemophilia, but certain other tests help quantify the assurance:
Pronounced bleeding at circumcision or bruising at childbirth.
Severe bruising that does not heal well during childhood.
Blood tests for clotting.
aPTT (active partial thromboplastic time) measures clotting, and will be prolonged in those positive for hemophilia (Agaliotis).
Treatments for Disease -- at present, there is no actual treatment for the disease, just a regimen of treatments for the results (bleeding and bruising). There are some treatments that a sufferer can use without medical supervision, though:
Avoid aspirin and NSAID's -- they interfere with clotting.
Drink excess fluids to dilute blood in urine and flush kidneys.
Immediately ice and split bruised joints, this will prevent more serious consequences until seen by a medical professional.
Some herbal remedies are purported to strengthen blood vessels have been reported, but not clinically supported.
Treatments that are somewhat effective but must be administered under the supervision of a doctor:
Factor replacement therapy can be used to keep a higher level of clotting factors constantly available in the bloodstream.
Octostim (SSAVP) is used to temporarily increase levels of Factor 8 in blood.
Amicar and Cyklopron, Aminocaproric acid and tanexamic acid both slow down the destruction of clots, and are particularly useful in dental treatments for oral bleeding.
Purified Factors can be given intravenously
Essentially, though, hemophiliacs should avoid strong contact sports (football, rugby, wrestling), and limit their exposure...
The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors however there have been no documented cases of such transmission in about ten years. Prevention of viruses can be prevented by: careful screening of donors; testing of donated blood products; treating donated blood products with a detergent and heat to destroy viruses (Hemophilia 2006). Both preventive and as-needed therapy can be administered at home, thus
Diathermy: Uses, Benefits, And Risks As one of the oldest treatment modalites, the therapeutic effects of heat have been experienced for several hundred years. In order to use heat in the treatment of deep muscle injury, diathermy treatment is the therapy of choice. Diathermy uses high-frequency electrical currents to heat deep muscular tissues. This heating results in pain relief, increased blood flow, and increased flexibility. Research has demonstrated evidence both for
With recessive genes (in which both mother and father have to contribute a 'positive' set of the same genes) are designed to work in precisely the same way that hemophilia does: One out of four offspring (on average) will have the condition, two will be carriers, and one will be neither sick nor a carrier. Klinefelter's syndrome, on the other hand, arises from a mechanical mistake that occurs on the
The most common treatment for hemophilia is replacement therapy, where concentrates of the clotting factors (factor VIII for hemophilia A or factor IX for hemophilia B) are administered to the patient. Clotting factors can be obtained from treated human blood sources or recombinant sources. (NHLBI, n.d.) Recombinant factors "are made by inserting the DNA encoding the human protein into mammalian cells grown in culture. They are purified and processed and
When these cells behave in an abnormal manner, it can lead to acute myeloid leukemia. Various gene therapy-based tests have been conducted on the guinea pigs as model animals. The gene therapy-based experiments have shown that deafness can be cured with the help of gene therapy. One of the main reasons of the deafness is the destruction of hair cells in the cochlea. A gene that has been known
Consider the use of genetic modification, for example, to modify genes not for life-saving procedures but for aesthetic changes. Remember that when one alters the DNA of a human being, even for a supposedly benign but necessary fashion, like making a short child taller, this DNA will be passed down to future generations of that child. This calls into question the ownership of the child's DNA. (Bereano, 1995) Modifying a
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