Hemophilia
Genetic Disorder (general)
A genetic disorder is a disease, illness or condition inherited genetically from abnormalities in genes or chromosomes. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Genetic disorders can be caused from many different ways. They can be caused by an absent or defective gene, new mutations, changes to the DNA, and some genetic disorders are passed down from the parents genes. Some genetic disorders are present before birth, because the disorder may or may not be a heritable disorder.
There are three main levels of genetic disorders. Level one - Single Gene disorder. A single gene disorder is the result of when a mutation causes the protein product of a single gene to be altered or missing. Level two - Chromosome abnormalities. In these disorders, entire chromosomes or large segments of them, are missing, duplicated, or altered. Level three - Multifactorial disorders. Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.
Genetic disorders caused by a mutation in one gene are either inherited in the dominant or recessive fashion. If you ge the disorder from the dominant gene, only one copy of the mutant gene is necessary. If the genetic disorder is from the recessive gene, two copies of the mutant gene is necessary for the disorder to manifest. In addition to dominant or recessive transmission, genetic disorders may be inherited in an autosomal or X-linked manner. Autosomal genes are those not located on the sex chromosomes, X and Y. X-linked genes are those located on the X chromosomes that have no complementary genes on the Y chromosome. Females have two copies of the X chromosomes, while males have an X and Y chromosome. Since males have only one copy of the X chromosome, if any mutation is occurring the the gene it will be passed to the male offspring wether it is a recessive or dominant. Autosomal recessive diseases are more common and include cystic fibrosis, Tay-Sachs disease, and sickle cell anemia. X-linked dominant disorders are rare, but X-linked recessive diseases are common and include hemophilia A. A genetic disorder can also be passed down from a familial. A familial disease is hereditary, passed on from one generation to the next. It resides in a genetic mutation that is transmitted by mother or father, throughout their genes to their offspring. Not all genetic disorders are familial though. Most genetic disorders can be detected at birth because the child is born with characteristic defects. Some genetic disorders however are not detected until later in the persons life.
Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. Hemophilia can damage your organs and tissues and may be life threatening. Hemophilia is usually passed down hereditary. People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and stop the vessels from bleeding. The two main types of hemophilia are A and B. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About every 9 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9). Hemophilia usually occurs in males. About every 1 in 5 000 males are born with hemophilia each year.
Some symptoms of hemophilia are easy bruising and excessive bleeding. You may be ble to suspect hemophilia in a baby boy if there is excessive bleeding after circumcision. Excessive bleeding can occur both externally and internally. Signs of excessive external bleeding include bleeding in the mouth from a cut, bite, or tooth loss, spontaneous nosebleeds, heavy bleeding from a minor cut. Signs of excessive internal bleeding include blood in the urine, deep bruises, tightness in joints may be the result of bleeding in the knees, elbows, or other joints, and the joints may become swollen, hot to touch, and painful to move.
Hemophilia is treated with replacement therapy, which is the giving or replacing of clotting factors that are too low or missing in a hemophilia patient. Patients receive clotting factors by injection. Some patients will require replacement therapy regularly in order to prevent bleeding, while other patients will only need therapy when they have begun bleeding and it won't stop.
The jewish people were the first to recognize hemophilia. The hemophilia blood disorder became known as the royal disease because Queen Victoria was a carrier and passed the carrier status down to many of her daughters.
Gene Therapy:
The transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders. Gene therapy works by a normal gene is placed where a missing or defective gene is to try and fix the problem. Gene therapy is used in Hemophilia.
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