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3. The main role of . 9. 5. 8.CONTENTS 1. 2. Introduction and formation of DNA Discovery of DNA Structure of DNA Genetic disorders Color blindness Down syndrome Cystic fibrosis Haemophilia Hemocromatosis Introduction and formation of DNA Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms and some viruses. 4. 6. 7.
Attached to each sugar is one of four types of molecules called bases. prokaryotes store their DNA only in the cytoplasm. DNA is organized into long structures called chromosomes. while ATCGCT might instruct for brown.DNA molecules is the long-term storage of information. In contrast. An important property of DNA is that it can replicate. This information is read using the genetic code. and more than 99 percent of those bases are the same in all people. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. chromatin proteins such as histones compact and organize DNA. The order. For example. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell. which specifies the sequence of the amino acids within proteins. the sequence ATCGTT might instruct for blue eyes. and more than 99 percent of those bases are the same in all people. since it contains the instructions needed to construct other components of cells. and phosphate are called a nucleotide. DNA is often compared to a set of blueprints. DNA consists of two long polymers of simple units called nucleotides. a base. Within the chromosomes. That is why chromosomes are duplicated before cells divide. Human DNA consists of about 3 billion bases. Together. or make copies of itself. Human DNA consists of about 3 billion bases. The DNA segments that carry this genetic information are called genes. such as mitochondria or chloroplasts. thymine (T). guanine (G) and cytosine (C). sugar. with backbones made of sugars and phosphate groups joined by ester bonds. Chemically. in a process called transcription. These two strands run in opposite directions to each other and are therefore antiparallel. The structure of the double helix is somewhat like a ladder. of these bases determines what biological instructions are contained in a strand of DNA. Nucleotides are arranged in two long strands that form a spiral called a double helix. The four types of nitrogen bases found in nucleotides are: adenine (A). in a process called DNA replication. such as proteins and RNA molecules. Eukaryotic organisms store most of their DNA inside the cell nucleus and some of their DNA in organelles. or sequence. helping control which parts of the DNA are transcribed. with the base pairs forming the ladder’s rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder. In sexual reproduction. The code is read by copying stretches of DNA into the related nucleic acid RNA. These compact structures guide the interactions between DNA and other proteins. .
Using arduous and complicated procedures. who was an eminent physiological chemist from Switzerland. since it was located in the nucleus of the cells. Mutagens often introduce errors at the copying stage. isolated this substance from the pus of discarded surgical bandages. When DNA becomes altered by a substance known as a mutagen. keep their mitochondria during fertilization. DNA was first isolated. This occurs because only egg cells. Friedrich Miescher. which means that these errors will be replicated numerous times as the damaged DNA perpetuates itself. and not sperm cells. However. causing them to develop birth defects. Others can change living organisms. or on developing organisms. analyzed and recognized as a unique macromolecule by Friedrich Miescher in 1869. contributing to the development of a variety of health problems. Friedrich called it nuclein. Miescher proved that the new substance did indeed come . organisms inherit their entire mitochondrial DNA from the female parent. it can cause health problems. Discovery of DNA The identification of DNA and its structure is one of the most important discoveries of the twentieth century.organisms inherit half of their nuclear DNA from the male parent and half from the female parent. Some mutagens have an impact on DNA in the eggs and sperm.
Semi conservative replication means that when the double stranded DNA helix was replicated. which led to the final confirmation of the replication mechanism that was implied by the double-helical structure. Finally in 1953. Finally. similar to the protein structure shown by Pauling but instead it was incorrect. England. Phoebus Levene identified the base. James D. Watson ended up incorrectly recalling the numbers. Although Miescher did develop some hypotheses about how "nuclein" might be involved in heredity. Further. The Meselson–Stahl experiment was an experiment by Matthew Meselson and Franklin Stahl in 1958 which supported the hypothesis that DNA replication was semi conservative. in 1937. had discovered an important structure of protein in 1951 and Franklin was a chemist working busily in a laboratory in France at the time. Their work focused on the structure of DNA. In 1919. were working together in a laboratory in Cambridge. Therefore a great discovery of . each of the two double stranded DNA helices consisted of one strand coming from the original helix and one newly synthesized. William Astbury produced the first X-ray diffraction patterns that proved that DNA had a regular structure. the model of DNA was published. Watson and Francis Crick suggested the first accurate model of DNA structure. when Franklin had said that she used x-ray crystallography to establish the water content of DNA. Shortly thereafter. Watson. sugar and phosphate nucleotide unit in the structure. he ascribed to the view at the time that any one type of molecule would be too simple to account for all the variation seen within species. It was Meselson-Stahl experiment in 1958.from cell nuclei. Watson and Crick received Franklin’s photo-51. he took the first x-ray pictures of DNA. and that is was a fundamentally new type of organic molecule unlike anything known at the time. In 1951. a physicist from New Zealand. Frederick Griffith performed experiments to prove that DNA carried genetic information. Wilkins. was a director for a biophysics laboratory at King's College. a chemist. The mistake was actually based on a falsely recollected conversation that Watson had with Franklin. The role of DNA in heredity was confirmed in 1952. a biologist. It has been called "the most beautiful experiment in biology. Pauling. when Alfred Hershey and Martha Chase showed that DNA is the genetic material of the T2 phage. a physicist. and Crick. Thereafter. which later resulted in his idea that DNA structure could be helical. Oswald Avery along with his co-workers identified DNA as the transforming principle in the year 1943. In 1928.
There are 4 different bases in a DNA molecule: adenine (a purine). DNA is made up of subunits which scientists called nucleotides. a phosphate and a base. Structure of DNA In 1951. about the DNA molecule: 1. Watson and Crick used X-ray crystallography data. . 23-year old biologist James Watson traveled from the United States to work with Francis Crick. Together. This is what they already knew from the work of many scientists. 2. 3. cytosine (a pyrimidine). Each nucleotide is made up of a sugar. guanine (a purine) and thymine (a pyrimidine). produced by Rosalind Franklin and Maurice Wilkins at King's College in London.DNA has come to end. to decipher DNA's structure. Crick was already using the process of X-ray crystallography to study the structure of protein molecules. an English physicist at the University of Cambridge.
4.One of the pair must be a purine and the other a pyrimidine for bonding to occur.. entitled "Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid" in the British journal Nature (April 25.This (DNA) structure has two helical chains each coiled round the same axis. it follows that if the sequence of bases on one chain is given. then on these assumptions the other member must be thymine. The number of adenine bases equals the number of thymine bases 6. similarly for guanine and cytosine.. volume 171:737-738. 1953. . then the sequence on the other chain is automatically determined. Watson and Crick attempted to put together the puzzle of DNA structure in such a way that their model would account for the variety of facts that they knew described the molecule. a single base from one chain being hydrogen-bonded to a single base from the other chain. with the bases being stacked on top of each other Working with nucleotide models made of wire. However. on either chain.. The number of purine bases equals the number of pyrimidine bases 5. they published their hypothesis..Only specific pairs of bases can bond together.. These pairs are: adenine (purine) with thymine (pyrimidine)...... if only specific pairs of bases can be formed." "The novel feature of the structure is the manner in which the two chains are held together by the purine and pyrimidine bases.The bases are on the inside of the helix and the phosphates on the outside.in other words.. so that the two lie side by side. and guanine (purine) with cytosine (pyrimidine)." ". The sequence of bases on a single chain does not appear to be restricted in any way. The (bases) are joined together in pairs. Once satisfied with their model." .Both chains follow right handed helices..) It is interesting to note that this paper has been cited over 800 times since its first appearance! Here are their words: ". . if an adenine forms one member of a pair...the two chains run in opposite directions... The number of guanine bases equals the number of cytosine bases 7. The basic structure of the DNA molecule is helical..
” Also.". There are four categories of genetic disorders. from mutations within the gamete up until the biological function of an organism ceases. The body is able to repair some mutations. as a result our ability to work with and manipulate the information-rich DNA molecule.. which is the cause of . The first are chromosomal abnormalities. “our cells have mechanisms for repairing DNA if mistakes are made in the sequence or if the DNA is damaged. Genetic disorders A genetic disorder is a medical condition that is caused by mutations in a single gene or within an entire set of genes. duplicated or otherwise altered. and they do not result in disorders.." And with these words. According to the Genetic Science and Learning Center (GLSC). the way was made clear for tremendous strides in our understanding of the structure of DNA and.It has not escaped our notice that the specific pairing we have postulated immediately suggests a possible copying mechanism for the genetic material. resulting from a mutation that causes the protein product of a solitary gene to become altered or missing. where a large segment or the entire chromosome in the DNA is missing. as is the case with Dawn syndrome and CES. There are also single-gene disorders. some mutations do not exist on both sets of chromosomes—as in cases where a mutation is only inherited from one parent—and one normal gene is enough to ensure proper function of the DNA. These mutations can happen at any point in life.
I. Finally. and anomalous trichromacy. There are some studies which conclude that color blind individuals are better at penetrating certain color camouflages and it has been suggested that this may be the evolutionary explanation for the surprisingly high frequency of congenital red-green color blindness. which are very rare. It is most often of genetic nature. Color vision deficiencies can be classified as acquired or inherited. • • Acquired Inherited: There are three types of inherited or congenital color vision deficiencies: monochromacy. there are mitochondrial disorders. but may also occur because of eye. after the realization of his own color blindness. the condition was often called daltonism.sickle cell anemia. or brain damage. The English chemist John Dalton published the first scientific paper on the subject in 1798. Color blindness Color blindness or color vision deficiency is the inability to perceive differences between some of the colors that others can distinguish. nerve. although this term is now used for a type of color blindness called deuteranopia. "Extraordinary facts relating to the vision of colours". Because of Dalton's work. there are multifactorial disorders that occur when mutations affect multiple genes and are often coupled with environmental causes—this is the case in diseases like diabetes and cancer. Further. or exposure to certain chemicals. . These disorders happen when mutations are present in the nonchromosomal DNA located within the mitochondria. dichromacy.
moderately affecting redgreen hue discrimination. It is likewise hereditary and sex-linked. This results in an impairment. affecting predominantly males. and poor vision. . It is hereditary. Dichromacy is a moderately severe color vision defect in which one of the three basic color mechanisms is absent or not functioning. also known as "total color blindness. Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Monochromacy. Monochromacy occurs when two or all three of the cone pigments are missing and color and lightness vision is reduced to one dimension. Anomalous trichromacy is a common type of inherited color vision deficiency. sex-linked. in the case of Protanopia or Deuteranopia." is the lack of ability to distinguish colors. Deuteranopia is a color vision deficiency in which the green retinal photoreceptors are absent. nonprogressive inability to distinguish any colors as a result of absent or nonfunctioning retinal cones. occurring when one of the three cone pigments is altered in its spectral sensitivity. electoretinogram. caused by cone defect or absence. Dichromacy occurs when one of the cone pigments is missing and color is reduced to two dimensions. It is a form of dichromatism in which there are only two cone pigments present. and present in 1% of males. sex-linked. It is hereditary and. It is associated with light sensitivity (photophobia). and electrooculogram. Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors. Cone monochromacy is a rare total color blindness that is accompanied by relatively normal vision. It is a form of dichromatism in which red appears dark. Rod monochromacy (achromatopsia) is an exceedingly rare. involuntary eye oscillations (nystagmus).
It is named after John Langdon Down. with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. II.rather than loss. When combined with a normal gamete from the other parent. A small number have severe to profound mental disability. The disorder was identified as a chromosome 21 trisomy by Jerome Lejeune in 1959. Trisomy 21 is caused by a meiotic nondisjunction event. caused by a similar shift in the green retinal receptors. the gamete thus has 24 chromosomes. the British physician who described the syndrome in 1866. Tritanomaly is a rare. and a particular set of facial characteristics. Down syndrome in a fetus can be identified with amniocentesis during pregnancy or in a baby at birth. Often Down syndrome is associated with some impairment of cognitive ability and physical growth. of trichromacy (normal three-dimensional color vision). Individuals with Down syndrome tend to have a lower-than-average cognitive ability. Protanomaly is a mild color vision defect in which an altered spectral sensitivity of red retinal receptors (closer to green receptor response) results in poor red-green hue discrimination. a gamete is produced with an extra copy of chromosome 21. compared to normal children with an IQ of 100. The condition is characterized by a combination of major and minor differences in structure. sex-linked. mildly affecting red-green hue discrimination in 5% of males. it is not sex-linked. hereditary color vision deficiency affecting blue-yellow hue discrimination. often ranging from mild to moderate disabilities. is by far the most common type of color vision deficiency. Down syndrome Down syndrome is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Unlike most other forms. It is hereditary. Deuteranomaly. and present in 1% of males. with three copies of chromosome 21. It is hereditary and sex-linked. The average IQ of children with Down syndrome is around 50. The incidence of Down . With nondisjunction. the embryo now has 47 chromosomes. Trisomy 21 is the cause of approximately 95% of observed Down syndromes.
poor muscle tone. with individuals having Mosaic Down syndrome typically 10–30 points higher. an unusually round face. and vocational training can improve the overall development of children with Down syndrome. and are capable of developing skills throughout their lives. and a larger than normal space between the big and second toes. up slanting palpebral fissures (the separation between the upper and lower eyelids). screening for common problems. and toilet teaching. but most have mild to moderate intellectual impairment. and thyroid dysfunctions. At birth. etc. Down syndrome can result from several different genetic mechanisms. Health concerns for individuals with Down syndrome include a higher risk for congenital heart defects. as well as constipation and other digestive issues. Although some of the physical genetic limitations of Down syndrome cannot be overcome. education and proper care will improve quality of life. also called the Simian crease). but they tend to grow at a slower rate and remain smaller than their peers. gastroesophageal reflux disease. They simply reach goals at a different pace — which is why it's . muscle hypotonia (poor muscle tone). For infants. kids with Down syndrome are usually of average size. Other factors may also play a role. obstructive sleep apnea. shorter limbs. recurrent ear infections. an almond shape to the eyes caused by an epicanthic fold of the eyelid.000 births. medical treatment where indicated. Early childhood intervention. hypotonia may contribute to sucking and feeding problems. oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as mongoloid fold).syndrome is estimated at 1 per 800 to 1. Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range. They also may have a broad head and a very round face. Down syndrome affects kids' ability to learn in different ways. a single transverse palmar crease (a single instead of a double crease across one or both palms. macroglossia (protruding or oversized tongue). including microgenia (an abnormally small chin). Many of the common physical features of Down syndrome may also appear in people with a standard set of chromosomes. dressing. although it is statistically much more common with older mothers. Kids with Down syndrome can and do learn. Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia. a conducive family environment. Toddlers and older kids may have delays in speech and self-care skills like feeding.
first recognized in the 1930s. Cystic fibrosis Cystic fibrosis is a common disease which affects the entire body. based on the assumption that surgery can reduce the facial features associated with Down syndrome. A multitude of other symptoms. by antibiotics and other medications. making it one of the most common life-shortening inherited diseases. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated. and continues to be controversial. III. therefore decreasing social stigma. your mucus becomes thick and sticky. Approximately 30. Normally. including sinus infections. CF is considered an autosomal recessive disease. CF develops when neither gene works normally. Plastic surgery has sometimes been advocated and performed on children with Down syndrome. watery substance.important not to compare a child with Down syndrome against typically developing siblings or even other children with the condition. and leading to a better quality of life. and infertility result from the effects of CF on other parts of the body. digestive juices. This gene is required to regulate the components of sweat. However. Mucus is a substance made by the lining of some body tissues. diarrhoea. Plastic surgery on children with Down syndrome is uncommon.000 Americans have CF. The mucus builds up in your lungs and blocks your . poor growth. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing in early childhood. only one is needed to prevent cystic fibrosis. Although most people without CF have two working copies of the CFTR gene. causing progressive disability and often early death. though not cured. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas. Therefore. and mucus. mucus is a slippery. if you have cystic fibrosis.
and pneumonia. This leads to repeated. The main reason is that very few cells take up the vector and express the gene. The aim of CF treatment is to keep the lungs clear of mucus and free of infection. gene therapy attempts to place a normal copy of the CFTR gene into affected cells. such that the gene introduced by the treatment is rendered unusable. Other times. greasy stools. Additionally. diabetes. Ultimately. increased heart rate. decreased blood pressure. pneumothorax. Studies have shown that to prevent the lung manifestations of cystic fibrosis. pancreatitis. frequent bouts of sinusitis. problems have been noted in DNA recombination. Gene therapy has been explored as a potential cure for cystic fibrosis. foul-smelling. severe constipation. One of the first signs of cystic fibrosis (CF) that parents may notice is that their baby's skin tastes salty when kissed or the baby doesn't pass stool when first born. Over time.airways—the tubes that carry air in and out of your lungs. tiredness. infertility and dehydration. so the treatment has little effect. Cystic fibrosis also causes your sweat to become very salty. diarrhoea. your body loses large amounts of salt when you sweat. rarely. Sometimes you will have few symptoms. these infections can severely damage your lungs. weakness. serious lung infections. liver disease. Multiple approaches have been tested for gene transfer. Examples include dehydration (a condition in which your body doesn't have enough fluids). only 5–10% the normal amount of CFTR gene expression is needed. bronchitis. without adverse reactions or an inflammation response. heat stroke. and. Ideally. As a result. your symptoms may become more severe. It's also important for someone with CF to eat well. However. gallstones. rectal prolapse. lung transplantation is often necessary as CF worsens. both methods were found to be relatively inefficient treatment options. The symptoms of cystic fibrosis vary from person to person and over time. . The buildup of mucus makes it easy for bacteria to grow. Transferring the normal CFTR gene into the affected epithelium cells would result in the production of functional CFTR in all target cells. Most of the other signs and symptoms of cystic fibrosis develop later and may include infections that block the airways that causes frequent coughing. such as liposomes and viral vectors in animal models and clinical trials. death. This can upset the balance of minerals in your blood and cause a number of health problems.
hypogonadism. abdominal pain. symptoms usually start about 10-15 years after they stop having a period. these organs can become diseased. Over time. If the extra iron is not removed. impotence. Individuals with hemochromatosis absorb too much iron from the diet. irregular heart beat or heart attack. Normally. If hemochromatosis is . pancreas. undiagnosed and untreated HHC increases the risk for diseases and conditions such as diabetes mellitus. People with Hemochromatosis absorb extra amounts of iron from the daily diet. Symptoms usually begin in men in their late 20’s to early 30’s. Untreated hemochromatosis can be fatal. these excesses build up in major organs such as the heart. joints and pituitary.IV. People with HHC can absorb four times that amount. pituitary. Iron carries oxygen (in hemoglobin) to all parts of the body. heart. lack of energy. Hemochromatosis Hemochromatosis (HHC) is a leading cause of iron overload disease. humans absorb about 8-10% of the iron in foods that they eat. Chronic fatigue and joint pain are the most common complaint of people with hemochromatosis. arthritis (osteoarthritis. liver. In women. Iron cannot be excreted therefore the metal can reach toxic levels in tissues of major organs such as the liver. infertility. The human body cannot rid itself of extra iron. thyroid. Iron is an essential nutrient found in many foods. osteoporosis). Other common symptoms include. and some cancers. cirrhosis of the liver or liver cancer. Therefore. depression. and synovium (joints). and heart flutters or irregular heart beat. pancreas. hypothyroidism. loss of sex drive.
is caused by defects in the HFE gene. or two different mutated copies. which occurs in adults. including an enlarged liver. When a person has two of the same mutated copies. one normal and one changed (mutated or mutation) copy. but mutated. Genetic tests can confirm a diagnosis and can help identify family members who are at risk for hemochromatosis. When a person has one mutated copy. cancer. he or she is called a carrier or heterozygote. A person can have two normal copies. cirrhosis. These are called modifiers. It is the same as regular blood donation but TP requires a doctor’s order (prescription). Several other genes and proteins that work with HFE have been discovered. he or she is called a compound heterozygote. There are several known defects in the HFE gene. It is very important to get iron levels down to normal. HFE has many purposes. ashen gray-green or reddish-bronze hypothyroidism (which can cause depression) Hemochromatosis can be overlooked by a doctor who is concentrating on treatment of diseases that are present in the patient. and liver failure diabetes heart problems ( irregular heart beat. he or she is called a homozygote. copies.not found early and treated. ankles and hips liver disease. Scientists are studying HFE and its modifiers to learn why some people get sick and others do not. heart attack or heart failure) impotence infertility loss of period or early menopause abnormal skin color. two copies of the same mutation. Everyone has two copies of HFE. one from Mom and one from Dad. osteoporosis) knuckles. but one important role is that it helps to control the amount of iron that is absorbed from food. iron may accumulate in body tissues causing disease such as: • • • • • • • • arthritis (osteoarthrithis. Type I hemochromatosis. These two defects are called C282Y and H63D. Therapeutic blood removal or phlebotomy is used to accomplish this. A person with severe iron overload may need to give blood as much as 8 times in a single month! The goal is to bring blood ferritin levels to a . Regular blood donation can be done every 8 weeks. When a person has two different. but two defects are most often found in people with hemochromatosis.
which is necessary to maintain the blood clot.normal range of 25 to 75ng/mL. thus females are almost exclusively asymptomatic carriers of the disorder.000–10. Haemophilia B occurs at about 1 in about 20. this can be fatal or permanently debilitating. X chromosome disorders. In severe haemophiliacs even a minor injury could result in blood loss lasting days. a temporary scab does form. which is used to stop bleeding when a blood vessel is broken. or it may be a new mutation. Once iron levels reach normal. Haemophilia Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation. The major signs and symptoms of haemophilia are bleeding and bruising. but can bleed for a much longer amount of time. the defective gene is guaranteed to manifest in any male who carries it. The TS% and serum ferritin tests can be done periodically to help determine how often blood should be removed. but the missing coagulation factors prevent fibrin formation. weeks. If not treated promptly. When hemochromatosis is diagnosed early and treated before organs are damaged a person can live a normal life expectancy. Haemophilia A is the most common form of the disorder. Female carriers may inherit the defective gene from their mother. This is because females have two X chromosomes while males have only one.000–34. lacking a 'back up' copy for the defective gene. or not ever healing completely. In areas such as the brain or inside joints. Thus a haemophiliac does not bleed more intensely than a normal person. a person can begin maintenance therapy. Thus when a blood vessel is injured. father.000 male births. Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. Only under rare circumstances do females actually have haemophilia. Because females have two X chromosomes and because haemophilia is rare. life expectancy may be shortened depending upon the disease. the chance of a female having two defective copies of the gene is very low. haemophilia is more likely to occur in males than females. which involves giving a pint of blood every 2 to 4 months for life. For people who have disease at the time of diagnosis. occurring at about 1 in 5. meaning. V.000 male births. Internal bleeding is common in people with severe haemophilia. Similarly to most recessive sex-linked. internal .
people with haemophilia can learn to recognise early symptoms of bleeding in the joints and get treatment quickly. the first sign is heavy bleeding from a dental procedure.bleeding can lead to damaged joints. You will need to learn to recognise signs and symptoms of bleeding so that you can get treatment as quickly as . Bleeding in the joints is the most common problem in persons with severe haemophilia. Desmopressin does not help in haemophilia B. moderate. It can go on for days if not treated. • Males with severe haemophilia may bleed heavily after circumcision. muscles. a medicine called desmopressin (DDAVP) is sometimes given to raise the body's levels of factor VIII. Early treatment can help limit damage to the joints. • Moderate haemophilia. and muscles Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems. • Children with mild to moderate haemophilia may not have any signs or symptoms at birth. Replacement therapy is usually not needed for mild haemophilia. The type of treatment you receive depends on several things. • Mild haemophilia. In most children. however. elbows and ankles. or surgery.giving or replacing the clotting factor that is too low or missing. the most common places are the knees. an accident. soft tissue. Although bleeding can occur in any joint. or severe haemophilia. Bleeding often occurs without an injury. the first signs are: • Heavy bruising and bleeding from the gums as they cut their baby teeth • Bumps and bruises from frequent falls as they learn to walk • Swelling and bruising from bleeding in the joints. or other parts of the body. However. it is applied only in certain situations (for example. Often. The extent of bleeding depends on the type and severity of the condition: • Children with very mild haemophilia may not have noticeable symptoms for years. You may need treatment only when bleeding occurs. Since the effect wears off with chronic use. including whether you have mild. prior to dental work or participation in sports) to prevent or reduce bleeding. The main treatment for haemophilia is replacement therapy .
Learn to recognise signs of bleeding. and make sure that it is treated quickly.possible. or other parts of the body. . muscles. When bleeding occurs. Some people with severe haemophilia receive treatment only when bleeding occurs. • Severe haemophilia. however. Delayed treatment can lead to complications. it is important to get treatment as soon as possible. You may also have treatment to prevent bleeding that could occur when participating in some activity. You usually need long-term or shorter term preventive therapy to prevent bleeding that could cause permanent damage to your joints.