Hemophilia

Hemophilia is a Sex-Linked bleeding disorder that slows blood clotting. It can cause people to bleed more often from little injuries and bleed alot longer from things such as surgery, any injury, or having a tooth pulled. Hemophilia can cause severe internal bleeding into joints, muscles, organs, or the brain. It can cause massive swelling and even death.

Hemophilia A is caused my a change in the F8 gene and Hemophilia B is caused by a mutation in the F9 gene. A is the classic one while B is known as christmas disease. A form of B is known as hemophilia B Leyden and that causes excessive bleeding in adulthood but gets better after puberty. Hemophila C is the rarest and takes much longer to clot.

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The symptoms are simply bleeding. They may not be noticed until later in life during surgery or after trauma. Diagnostics and Detection are normally after a severe bleeding episode.

People can be treated by receiving the clotting factor by intravenous infusions which is through a vein.

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Hemophilia is more common in men. 1 in 400 to 1 in 5000 males are born with Hemophilia A and 1 in 20,000 are born with Hemophilia B worldwide. it affects all ethnic groups.

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Life expectancy isnt really affected but some may bleed to death and internal bleeding may cause problems.

CRI-DU-CHAT SYNDROME- OJ

Cri du chat syndrome, also known as chromosome 5p deletion syndrome, Lejeune’s syndrome is a Genetic DISORDER.It is called cri du chat because at birth newborns cry sounds like a cats cry. it is caused from formation of egg or sperm by unequal recombination during meiosis. The Genetic Disorder was first identified in 1963 by Geneticist Jerome Lejeune(who also discovered down syndrome). Cri du chat is caused by Deletion of the top part of Chromosome 5 (shown BELOW)

Many genes are missing from the deletion and some may contribute to to the symptoms of the disorders. the life expectancy is normal.Here are the Symptoms

• small at birth
• respiratory problems
• Larynx doesn't develop properly which cause the cat like cry 
• have a small head 
• wide eyes small bridge of the nose 
• Have trouble walking and talking 
• Poor muscle tone, skeletal problems, hearing and sight problems 
• Severe Mental Retardation 
• Behavior problems

the disorder is identified byt infants cry like a cat, Microcephaly, Poor muscle tone,  mental retardation, test  in the mothers womb. There are no treatment for Cri du chat  but they can go to therapy to improve language skills and develop normally as possible.

Marfan Syndrome

The Marfan Syndrome is a defect in your gene that makes the fibrillin 1 an important protein for connection tissue. This defect takes place in the chromosome 15. There are many ways to identify a person with Marfans Syndrome. Everyone who is effected with this has at least three features in different parts of the body. Many symptoms are...

1. Long legs
2. Long arms
3. Curved spine (hunch back)
4. Long, thin fingers
5. Near sighted
6. Stretch marks on skin

There is no easy way to tell if you have this syndrome, there is no easy bloo

d test you have to be evaluated by a doctor. There is no cure but there is therapies that can limit complications. The way you would get these treatments is by seeing specialized doctors that would make an individualized program. The life expectancy for a person with this disease is just a little bit under the normal life expectancy. This disorder is pretty uncommon one in every six thousand babies is born with Marfan. And there is no difference in babies born with Marfin in different ethnicities.

Wolf-Hirschhorn Syndrome

Wolf Hirschhorn affects 1 in 50,000 new born babies. Wolf Hirschhorn is caused by the partial deletion of the short arm on chrmosome 4. (pictured below)

Wolf Hirschhorn is characterized as a person with a disappearance on one of the arms of chromosome 4. Physical features include: Intrauterine growth restriction, mental retardation, characteristic facial dysmorphism, microcephaly, earlobe anomalies and closure defects ( cleft lip, coloboma of the eye, and cardiac septal affects ). Wolf-Hirschhorn also causes the person to have seizures and to have dental defects such as missing teeth. However 85-90% of cases of Wolf- Hirschhorn Syndrome are not inherited they are simply caused during a mutation when the egg and sperm meet. However the disorder may be inherited by a parent with the same disorder. The life expectancy for someone with Wolf-Hirschhorn is about 25. The oldest person still living with Wolf-Hirschhorn syndrome was born in 1949. Currently no population is a risk for Wolf-Hirschhorn syndrome because it is so rare. To date there are no known treatments for Wolf-Hirschhorn Syndrome.

Hemochromatosis

        Hemochromatosis is a disorder which causes the body to absorb too much iron from the person's diet. Hemochromatosis is an autosomal recessive disorder, which means that the person can only inherit the disorder if they inherit the abnormal (recessive) gene from both parents. There are two genetic mutations associated with hemochromatosis; C282Y and H63D. The numbers 282 and 63 label the place of the defects of the HFE gene located on chromosome number 6.
        People with hemochromatosis have no symptoms at a young age and have no idea that they have the disorder. Symptoms may not appear until the person is in their forties or fifties. Iron deposits in the skin cause the skin to become darker and look slightly orange. There is also an elevated level of iron in the blood. Iron deposits in the pancreas result in a decrease of the production of insulin causing diabetes mellitus. Iron deposits in the heart muscle can cause heart failure and abnormal rhythms of the heart. Iron deposits in the liver can cause scarring of the liver and an increased risk of liver cancer.
        Most people with hemochromatosis are diagnosed at an early age and show no symptoms. The disorder us detected when elevated levels of iron in the blood are found in blood testing.
        The most common and most effective treatment for hemochromatosis reduces the level of iron in the body. This treatment is called phlebotomy and in this treatment blood is withdrawn from the veins in the person's arm. Usually, the person goes in every one or two weeks to withdraw one unit of blood, which has 250 mg of iron in it. Chelation therapy uses chemical compounds and proteins from the body to remove toxic metal molecules from the blood. Also, a diet with lots of vitamin C can help absorb some of the iron in the blood. Fruits and vegetables are good for the diet and too much red meat should be avoided.
        Type 1 hemochromatosis is one of the most common genetic disorders in the United States, affecting about one million people. It mostly affects people of Northern European descent. All other types of hemochromatosis is very rare; only a small number of people are affected with hemochromatosis (not type 1) worldwide.
        Most people affected with hemochromatosis life the average life expectancy.

                                                                           

Iron is contained in red blood cells.

Loeys-Dietz Syndrome

Loeys-Dietz Syndrome also known as LSD is a autosomal dominant syndrome which is caused by a mutation in the genes encoding for transforming growth factor. It is inherited from the persons parents and since it is autosomal dominant only one parent needs to have the syndrome to pass it on. To diagnos LSD Doctors will check the patients family history, a physical exam, and do a genetic test to see if they have lsd.

Some of the symptoms of Loeys-dietz are,

1. Split uvula
2. Defects in heart and brain
3. Weak bones
4. skin changes
5. Defects of the spine and chest
6. far apart eyes (picture to right)

Depending on how sever The persons LSD is there are different types of treatment. If they have a split uvula doctors can usually perfom sugery to fix this. For far apart eyes, doctors cant do much for it and for weak bones it will be sugested not to play high impact sports. LSD is a relativly new disease and there is no pevelence in society known. Depending on the severity of LSD and treatment quality The life expectance is any were from 20-70 years old.

Phenylketonuria

Phenylketonuria, also known as PKU is a disease that affects the way your body breaks down proteins. PKU is an autosomal recessive inherited disease, so you inherit one infected chromosome from your mom and one infected chromosome from your dad. If you were looking at the karyotype of someone with this disease, you would notice that there is a mutation in a gene on chromosome 12. This mutation is a protein gene mutation that codes for protein PAH. If someone does not have enough PAH, phenylalanine builds up in their blood, which leads to poisoning their nerve cells. When babies are first born, they show no signs. If they continue living without being treated, they can get severe brain damage, such as Epilepsy. This can also give them behavioral problems and stunt their growth. Other signs can be eczema, musty body odor, small head and fair skin. When babies are first born they are tested for this disease. A small blood sample is take from their heel or arm and the doctors test it for the level of phenylalanine. If there is a high level of phenylalanine, then the baby has the disease. If you have the disease you need to eat a protein-free diet because many proteins contain phenylalanine. Infants are given a special formula that does not contain phenylalanine. As you get older with this disease, you need to avoid protein rich foods, such as meats, cheeses, nuts and eggs. On average one out of every fifteen thousand babies are born with this disease. If you follow the specific diets of this disease the life expectancy is the same as if you lived regularly.

Huntington's disease

Huntington's Disease is a disorder in which the nerve cells in certain brain parts are wasted. HD is inherited by parents. Huntington's Disease is a genetic defect that take place on chromosome 4. There are no known treatments yet for HD. The main goal is to slow down the symptoms. People with HD usually die within 15-20 years. The HD itself is a reason people die, but another common reason is suicide. There are 2 forms of HD. The more common one develops at the age of mid 30's and 40's. The more rare type develops at a young age. If the parents have HD there is a 50% chance that the child will also have it.

Symptoms

• Behavioral disturbances

• Hallucinations

• Irritability

• Moodiness

• Restlessness or fidgeting

• Paranoia

• Psychosis

  
  

  
  

Maple Syrup Urine Disease

Maple syrup urine disease is a disorder that is passed down genetically. People with this disease cannot break down some proteins, resulting in urine that smells like maple syrup. This disease is caused by a gene defect, in which the amino acids leucine, isoleucine, and valine cannot be broken down. The affect of not being able to break the amino acids down is a buildup of these chemicals in the blood. If this disease is untreated, it can lead to seizures, comas, and death. Maple syrup is not very common, only affecting about 1 in every 185,000. The genes related to this disease are mutations in the BCKDHA, BCKDHB, DBT, and DLDD genes. These genes provide instructions for making proteins for breaking down the certain amino acids. This disease is AUTOSOMAL RECESSIVE, so people can be a carrier of the disease, but show no symptoms. If not treated, this disease is very deadly, so for a treatment, a special diet is needed to follow. This diet may be a protein free diet, or avoiding eating foods with the amino acids leucine, isoleucine, and valine.

Sickle Cell Disease

Sickle cell disease is inherited by both the parents passing a defective copy of the Gene. If one parent passes it down while the other dose not that child is a carrier. Less oxygen can travel to the organs of the person who has this disease causing the organs to die. Red blood cells of the people with the disease live less than normal red blood cells so people have a low anemia. Sickle cells get stuck and cause pain to the affected person. People who have this live 30 years less than normal people. Most states routinely check newborns for the disease but if not there is a test called hemoglobin electrophoresis which you can take to see if you are affected or carrier. Most people with this take a dose of penicillin a day and folic acid. People who have this also get blood transplants to get healthy blood cells. This disease mostly affects African Americans in America. 1 out of every 500 African Americans in america are affected.

Patau's Syndrome

Patau's syndrome also known as trisomy 13 happens when there are 3 copies of genetic material from chromosome 13.
This syndrome occurs when extra DNA in trisomy 13 appears in body cells. The extra chromosome interfers with body development and other development.

The symptoms:

• Cleft lip of palate



• Clenched hands



• Extra fingers or toes



• Seizures



• Skeletal abnormalities (limbs)



• Scalp Defects (missing skin)



• Small Eyes



• Small head



• Small Lower jaw

There can be signs of congenital heart disease like for example the heart being on the right side of the chest instead of the left

The problems with is syndrome is that people get this syndrome at newborn stage. The complications are that it may cause deafness, heart failure, feeding problems, trouble breathing, and visions problems.

Spinal Muscular Atrophy

Spinal Muscular Atrophy is an autosomal recessive genetic disorder that is inherited by having both parents carriers of the gene. The chances of the child of two carriers is 25% or 1 out of 4. Someone who has Spinal Muscular Atrophy have either a missing or mutated SM1 gene. This gene produces a protein called Survival Motor Neuron. Motor neurons are nerve cells in the spinal cord which send out nerve fibers to muscles throughout the body. Because this protein is necessary for survival, without it, nerve cells will stink and die over time and this causes muscle weakness. As children with SMA grow, their bodies become weak, fragile and stressed.

SMA can be diagnosed through a blood test, specifically looking for the presence or absence of the SM1 gene. Doctors may also request a muscle biopsy.

Currently there are no drugs to treat Spinal Muscular Atrophy but there has been over $17million invested into SMA drug development.

Nuerofibromatosis

Neurofibromatosis or NF1 is the growth of noncancerous tumors that form underneath the skin. This disorder is caused by a mutation on chromosome number 17. This disorder is Autosomal Dominant and if one parent has the mutation then half the children will have NF1. When people get this dicease they develop Neurofibrons which are tumors that can block arteries and can cause a stroke or heart attack. Each persons symptoms vary because the genes are so different that the severity of the symptoms vary.

Doctors have not found a cure for NF1 but tumors can be surgically removed and corect malformed bones. In very few cases the tumors actually become cancerous which is then treated with chemotherapy. The wierd thing about NF1 is that they may only have a couple of tumors or they may have thousands.

Blooms Syndrome

Blooms syndrome is an inherited birth disorder. People diagnosed with Blooms syndrome are very short and weigh very little when they are born. On average, they only reach about 5 ft at the tallest when they are adults. Blooms syndrome causes the affected to have a very different and uncommon face. They typically have a long narrow face, a larger nose, and a high pitched voice. Men that have Blooms syndrome are unable to produce sperm. The disorder is most common in central and eastern Europe. One third of the affected are Ashkenazi Jews.

The condition is inherited by the auotosomal recessive pattern. The parents that produce a baby with this disorder are typically both carriers of the recessive/mutated gene. But, this does not mean that the parents have the disorder, they are carriers, not the affected.

Many with this syndrome are more prone to being diagnosed with cancer and diabetes. Many have severe troubles with learning. They also have many infections to the ears, respiratory tract, and lungs during their infancy.

Sister chromatid exchange: left is normal and right is Blooms syndrome.

Canavan Disorder

Canavan disorder is inherited if both parents are carriers of the defective gene. Both of the parents need to be carriers in order to have an affected child. If both parents carry the gene mutation, there is a 25% chance for the pregnancy to have a child that will be affected with the disease. Canavan disorder is a degenerative disease in the brain. It is also located on chromosome 17.

Symptoms of Canavan disorder usually appear in the first 3 to 6 months of childhood and increase rapidly. Symptoms include lack of motor development, trouble with feeding, abnormal muscle tone (stiffness or weakness), and an abnormally large, poorly controlled head. Blindness, hearing loss, and paralysis may also occur.

Canavan disease can be identified with a blood test before the birth of the baby. The blood test can screen for missing enzymes or mutations in the gene. Canavan disorder causes progressive brain atrophy. There is no cure for this disease or a standard course of treatment.

Although this disorder can occur in any ethnic group, it is mostly common throughout Ashkenazi Jews. Studies show that this disorder affects 1 in 6,4oo to 13,500 people in the Ashkenazi Jewish population.

The life expectancy with Canavan disorder varies. Many affected individuals only survive through childhood. Only some may survive into their teen years or beyond.

This is a picture of a boy who has been affected with Canavan disorder.

Wilson Disease-Patryk Swietek

Wilson Disease

Wilson disease is a genetic disorder that doesn't let your body get rid of extra copper. Copper is required for your body but having too much of it is poisonous. To get Wilson disease, you need to inherit two not normal copies of ATP7B gene from each parent. To carry the disease, you only need one. The symptoms of this disease are attacks at the liver, the nervous system or both. This results in swelling of the liver, fluid buildup and being bruised more easily. Good news is that Wilson disease can be diagnosed with physical examination and laboratory tests. It can also be treated although it requires lifelong treatment to control copper amount in body. People who get the disorder detected early get good treatment, can have good health.

ATP7B GENE

The ATP7B gene is pointed out in the image above. This gene is located on the long arm of chromosome 13.

Cystic Fibrosis- Sammy Kim

Cystic Fibrosis

Cystic Fibrosis is inherited when chromosome 7 (called CFTR) contains a defective gene. If both parents which contain Cystic Fibrosis or are carriers of the disease pass the flawed gene onto their child, then the child will be affected with Cystic Fibrosis. If the child only inherited one of the flawed gene, then the child will be called a carrier which is not affected with the disease, but it can possibly be passed down and affected on their children. When people is affected with this disease, they have symptoms such as: coughing, a salty-tasting skin, weight loss, and a lot more. They also have thick mucous clogs in the airways for the lungs which rises the chance of having an infection. This happens because the protein produced by this gene helps salt move in and out of the cells, but without it the lungs will be clogged up with thick and sticky mucous. People with Cystic Fibrosis can be detected by the excessive amount of salt in their sweat and also by taking a sample of their blood. There is no cure for this genetic disorder, but there are a few treatments which makes the people with the disease live longer. The treatments for it are repeatedly hitting the back to free up the mucous in the chest, inhaled antibiotics which keep the airways open and resist the infection in the lungs, and gene therapy (When a healthy chromosome 7 is placed into the lung cells of the person with the disease to fix the defective gene). Cystic Fibrosis is most common with the white people population in the United States. It is said that it is found in 2,500 to 3,500 White newborns in one year. There are about 30,000 people in the United States which is affected by Cystic Fibrosis. The average life expectancy for someone with Cystic Fibrosis is around 30 years old.

(HERE IS A PICTURE OF A CHROMOSOME 7 WHICH CONTAINS A DEFECTIVE GENE).

Beta Thalassemia

Beta Thalassemia is a blood disorder. It reduces the amount of hemoglobin you produce, which is a protein that contains iron. Hemoglobin in red blood cells is what carries oxygen to cells throughout your body.

Beta Thalassemia is caused by mutations on the HBB gene which can be found on the short arm of chromosome 11. HBB is a gene that holds instructions for making the protein beta-globin, which is a component in hemoglobin. It is inherited from an autosomal recessive pattern. You can inherit this disorder from your parents even though they don't show symptoms and signs from the condition.

Beta Thalassemia is classified into two types depending on how severe your symptoms are. There is Thalassemia intermedia and the most severe is Thalassemia Major. Those with thalassemia major will experience symptoms or signs of this disorder in the first two years of their lives. Children with thalassemia major will experience delayed puberty, yellowing of the skin and eyes, not being able to gain weight, enlarged liver, spleen, and heart, and their bones maybe misshaped. Those with thalassemia major may experience such severe symptoms that they may need to frequently get blood tranfusions to restore their red blood cell supply. Those with thalassemia intermedia usually only experience anemia. Anemia is a condition in which your body doesn't have enough healthy red blood cells.

You're diagnosed with beta thalassemia depending on how severe your anemia is and by taking a blood test to check for any red blood cell or hemoglobin abnormalities. If your results come back abnormal for either, genetic testing for mutations on the HBB gene will be taken.

Treatment that is available for thalassemia major is having regular transfuctions to help increase the production of iron and correct anemia. The only existing cure is to have a bone marrow transplant from either an identical sibling or a donor. For thalassemia intermedia, treatment consists of having frequent therapy that involves having red blood cell tranfusions.

This is a common blood disorder worldwide. The chances of inheriting this disorder is 1 in 3,600 individuals. It occurs most often in people from North Africa, the Middle East, Central and Southeast Asia, India, and Mediterranean countries.

The life expectancy for someone that isn't treated will die in their early 30's and those that are treated can live a normal lifespan.