Health Library

The Health Library is a collection of health and wellness resources created for learning and accessibility. Select a topic below for related health information or search for a topic in the search bar for more information on other medical conditions.

Genetics and Genomics

  • At-home genetic tests check the DNA of your cells. These tests can find changes in your genes that increase your risk for certain health problems. You don't need a prescription from your doctor and you don't need to involve your health insurance...

  • What are mitochondrial diseases? Mitochondria (say "my-tuh-KAWN-dree-uh") are tiny parts of the cells in your body. Mitochondria are often called the powerhouse of a cell, because one of their jobs is to make energy. Mitochondrial diseases are a group of rare diseases that can be passed down from mothers to...

  • A diagnosis of CF is life-changing. But your child can still have a fulfilling life.

  • Home treatment can help your child live longer. It's not always easy, but you can do it. Here's how.

  • Learn what cardiac catheterization for PDA is and how to prepare your child for it.

  • Learn what you can do at home to care for your child after a cardiac catheterization for PDA.

  • Learn what an EP study and ablation are and how to prepare your child for each one.

  • Learn what you can do at home to care for your child after an EP study and ablation.

  • Genes determine what you inherit from your parents, from blood type and hair color to certain diseases. Changes in genes or chromosomes may cause health problems. We have hundreds of topics to answer your questions about genetic conditions. Maybe you're wondering about your baby's risk for disease or how to care for a...

  • Clopidogrel (Plavix) is a medicine to prevent blood clots, which can cause heart attacks and strokes. It may be prescribed after a heart attack, after angioplasty, and for people who have heart disease or peripheral arterial disease. Some people...

  • What is sickle cell trait? Sickle cell trait occurs when a person inherits a sickle cell gene from just one parent. It's not the same as sickle cell disease, in which a person inherits two sickle cell genes, one from each parent. People with sickle cell disease have just one kind of hemoglobin (hemoglobin S)...

  • Learn what important blood cells called platelets do.

  • If you've found out that you have a BRCA gene change, you may be feeling pretty overwhelmed. But when it comes to cancer, knowledge is power. Now that you know you are BRCA-positive, you can take steps to reduce your risk of breast and ovarian cancer. Thinking about cancer risk Experts know that women who are...

  • Learn what bronchoscopy is and how it is done.

  • How can I care for myself? If you have hemophilia, you can take steps at home to prevent bleeding episodes and improve your health. Recognize bleeding symptoms. Be active, but exercise with care. Don't take nonprescription medicines unless your doctor tells you to. Prevent injuries and...

  • Guides you through the decision to have screening tests to look for Down syndrome and birth defects. Discusses what the tests look for. Covers benefits and risks. Includes interactive tool to help you make your decision.

  • Most people who develop Alzheimer's disease do not have a history of the disease in their families. But if you do have a family history of Alzheimer's disease (one or more members of a family have had the disease), then your risk of getting it is...

  • What is color blindness? Color blindness means that you have trouble seeing red, green, or blue or a mix of these colors. It's rare that a person sees no color at all. Color blindness is also called a color vision problem. A color vision problem can change your life. It may make it harder to learn and read, and you...

  • Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. It helps protect the lungs from the damage caused by inflammation that can lead to emphysema and chronic obstructive pulmonary disease (COPD). People whose...

  • Children with Down syndrome can learn to eat by themselves with your help and encouragement. Eating independently is a developmental milestone that involves the use of small muscles (fine motor skills), large muscles (gross motor skills), and...

  • As your child with Down syndrome enters puberty, grooming and hygiene become increasingly important. Your child may need to learn new habits to stay well groomed. Cleanliness is very important for proper socialization and acceptance by peers. Stress...

  • Children with Down syndrome have reduced muscle tone, which can delay development of their motor skills. Children with delays may roll over, sit up, pull up, stand, and walk later than other children their age. Encourage motor skill development...

  • Children with Down syndrome usually have delayed speech and language development. Typically, these children have a much harder time learning to talk (expressive language) than with understanding what they hear (receptive language). On average,...

  • What is Down syndrome? Down syndrome is a set of physical and mental traits caused by a gene problem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person...

  • Spina bifida is a type of birth defect called a neural tube defect. It occurs when the bones of the spine (vertebrae) don't form properly around part of the baby's spinal cord. Spina bifida can be mild or severe. The mild form is the most common. It...

  • Hemochromatosis happens when too much iron builds up in the body. Your body needs iron to make hemoglobin, the part of your blood that carries oxygen to all of your cells. But when there is too much iron, it can damage the liver and heart and lead...

  • Discusses Tay-Sachs disease, a genetic disorder in which little or no hex A enzyme is produced by the body. Discusses screening. Covers symptoms to watch for in babies and young children. Covers late-onset Tay-Sachs disease.

  • What is von Willebrand's disease? Von Willebrand's disease is a bleeding disorder. When you have this disease, it takes longer for your blood to form clots, so you bleed for a longer time than other people. Normally, when a person begins to bleed, small blood cells called platelets go to the site of the bleeding and...

  • What is Hirschsprung's disease? Hirschsprung's disease is a birth defect that affects the nerve cells in the large intestine. These nerve cells control the muscles that normally push food and waste through the large intestine. In babies who have Hirschsprung's disease, the muscles in the wall of the large intestine...

  • What is Klinefelter syndrome? Klinefelter syndrome is a genetic condition that affects males. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have a variety of physical traits. Many men...

  • What is thalassemia? Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin or abnormal hemoglobin. Hemoglobin helps red blood cells spread oxygen through your body. Low levels of hemoglobin may cause anemia, an illness that makes you feel weak and tired...

  • Lung transplant is an option for a few people who have severe lung problems that are caused by cystic fibrosis. The procedure removes the diseased lungs and replaces them with healthy lungs from a recently deceased donor. Sometimes a procedure called a living-donor lobar lung transplant is performed while a person is...

  • What is cystic fibrosis? Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas. People who have cystic fibrosis can have serious breathing problems and lung...

  • Hemophilia can be treated by replacing missing blood clotting factors. This is called clotting factor replacement therapy. Clotting factors are replaced by injecting (infusing) a clotting factor concentrate into a vein. Infusions of clotting factors help blood to clot normally. Clotting factor replacement therapy can...

  • Learn what hemophilia is, what can cause it, and what treatment is needed.

  • The test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (hex A) in the blood. Hex A breaks down fatty substances in the brain and nerves. Tay-Sachs is an inherited disease in which the body can't break down fatty substances as it should, so the fatty substances collect in the nerve cells...

  • People who have sickle cell disease can sometimes have vision problems. Blood cells that change shape, or "sickle," can get trapped in blood vessels, blocking the blood flow. When this blockage occurs in the small blood vessels in the inner lining...

  • Discusses problems with how a baby's heart forms. Also looks at problems found when a person is an adult. Includes info on patent ductus arteriosus, aortic valve stenosis, and coarctation of the aorta. Covers treatment with medicine and surgery.

  • Splenic sequestration is a problem with the spleen that can happen in people who have sickle cell disease. Splenic sequestration happens when a lot of sickled red blood cells become trapped in the spleen. The spleen can enlarge, get damaged, and not...

  • Stem cell transplantation is a potential cure for sickle cell disease. Stem cells can be found in bone marrow. Bone marrow is the substance in the center of your bones that produces red blood cells. A person with sickle cell disease has bone marrow that produces red blood cells with defective hemoglobin S. But if that...

  • Describes sickle cell disease. Covers causes and symptoms. Discusses how it is diagnosed. Covers treatment as the disease progresses, including with surgery or medicines like hydroxyurea. Offers home treatment tips.

  • Caring for a child with a congenital heart defect can be challenging. The following tips may help you care for your child so that he or she is as healthy and comfortable as possible. These tips may also help you cope with the difficulties that parents often experience. Caring for your child in the hospital...

  • A heart catheterization is a procedure used for both diagnosis and treatment of congenital heart defects. As a test, this procedure allows doctors to see how blood flows through the heart chambers and arteries. As a treatment, the doctor can use special tools to fix a heart defect during this procedure. How is it...

  • A sickle cell test is a blood test done to check for sickle cell trait or sickle cell disease. Sickle cell disease is an inherited blood disease that causes red blood cells to be deformed ( sickle-shaped). The red blood cells deform because they contain an abnormal type of hemoglobin, called hemoglobin S, instead of the...

  • Phenylketonuria (PKU) is a rare genetic disorder in which the body cannot break down an amino acid called phenylalanine (say "fehn-uhl-AL-uh-neen"), which is a part of protein. This substance is found in breast milk, many types of baby formula, and...

  • Discusses cancer antigen 125 (CA-125) test that can help show if some types of cancer are present. Covers its use to check how well treatment for ovarian cancer is working or to see if ovarian cancer has returned. Covers possible test results.

  • A genetic test checks the DNA of your cells. It can find changes in your genes, or it can check the number, order, and structure of your chromosomes. Testing may be done on samples of body tissue, blood, or other body fluids such as urine or saliva. You inherit half of your genetic information from your mother and...

  • Hypertrophic cardiomyopathy (say "hy-per-TROH-fik kar-dee-oh-my-AWP-uh-thee") happens when the heart muscle grows too thick, so the heart gets bigger and its chambers get smaller. Many people have no symptoms and live a normal life with few...

  • Gives info on heart problem that leads to heart failure. Includes symptoms, diagnosis, and treatment with medicines, lifestyle changes, and surgery. Also info on causes like amyloidosis, hemochromatosis, and sarcoidosis. Includes info on tests.

  • A sweat test measures the amount of salt chemicals (sodium and chloride) in sweat. It is done to help diagnose cystic fibrosis. Normally, sweat on the skin surface contains very little sodium and chloride. People with cystic fibrosis have 2 to 5 times the normal amount of sodium and chloride in their sweat. During the...

  • Covers procedure to destroy (ablate) tiny areas of heart muscle causing fast heart rate. Includes radiofrequency ablation and cryoablation. Covers use for supraventricular tachycardia (SVT), atrioventricular reciprocating tachycardia (AVRT), Wolff-Parkinson-White (WPW) syndrome, and ventricular tachycardia.

  • Cardiomyopathy is a disease that affects the heart muscle and the way it pumps. There are different types of cardiomyopathies. And these types have different causes. Cardiomyopathy may occur as a result of damage to the heart, such as from a heart attack, or a person may inherit the tendency to develop it. What...

  • If you need oxygen at home, it is important to learn how to use and take care of your equipment. This information will help you get the most from your oxygen treatment. If you have low blood oxygen levels, breathing extra oxygen can help you feel better and lead to a longer, more active life. You can travel even...

  • Wolff-Parkinson-White (WPW) syndrome is a heart rhythm problem that causes a very fast heart rate. WPW is one type of supraventricular tachycardia called atrioventricular reciprocating tachycardia (AVRT). With WPW, an extra electrical pathway links the upper chambers (atria) and lower chambers (ventricles) of the...

  • Hypertrophic cardiomyopathy is a genetic disease in which the heart muscle grows abnormally, making the heart muscle thicken. Hypertrophic cardiomyopathy is described as either obstructive or nonobstructive. Nonobstructive hypertrophic cardiomyopathy. The heart muscle is abnormally thick but not to...

  • Some people who have hypertrophic cardiomyopathy are at high risk for sudden death. It can occur at any age, but it is most shocking when it happens to young adults or athletes. While the media often highlight these tragic deaths, sudden death is...

  • Pain is a long-lasting problem for people who have sickle cell disease. Bouts of severe pain can last for hours to days and are difficult to treat. Pain can be exhausting for caregivers as well as for the person in pain. A pain management plan can help a person cope with chronic pain and with pain caused by a sickle...

  • During a blood transfusion, a person (the recipient) receives healthy blood from another person (the donor). The donated blood is carefully screened for diseases before it is used. Before receiving a blood transfusion, the recipient's blood is analyzed closely (using blood type) to make sure the donor blood is a close...

  • Some people inherit one sickle cell gene and one other defective hemoglobin gene, resulting in various types of sickling disorders. These disorders range from mild to severe. Sickle cell disease (hemoglobin SS disease) occurs when both genes produce hemoglobin S. This person typically has...

  • Homocystinuria is a rare inherited disease that causes a deficiency of one of several enzymes needed for the breakdown of food ( metabolism). This enzyme deficiency may cause a buildup of homocysteine in the blood. Excess homocysteine may be released in the urine. Babies born with homocystinuria may fail to grow and...

  • Discusses BRCA gene test to check chances of breast cancer if your family or personal history shows a high chance for this cancer. Covers a woman's risk of breast or ovarian cancer if she has BRCA1 or BRCA2 gene changes. Discusses possible test results.

  • What are genes? Genes are the part of a body cell that contain the biological information that parents pass to their children. Genes control the growth and development of cells. Genes are made of DNA (deoxyribonucleic acid), a substance inside the center (nucleus) of cells that contains instructions for the...

  • Cystic fibrosis (CF) is an inherited disease caused by a change (mutation) in the cystic fibrosis transmembrane regulator (CFTR) gene. It is a chronic, progressive disease that causes mucus to become thick and sticky. The mucus builds up and clogs passages in many of the body's organs, but mostly in the lungs and the...

  • Hemochromatosis gene (HFE) testing is a blood test used to check for hereditary hemochromatosis, an inherited disorder that causes the body to absorb too much iron. The iron then builds up in the blood, liver, heart, pancreas, joints, skin, and other organs. In its early stages, hemochromatosis can cause joint and...

  • Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. Even though most of these diseases are severe and can cause early death, some can be treated to reduce symptoms and prolong life. Some of these...

  • Discusses screening test for hereditary hemochromatosis, a genetic disorder that causes the body to absorb too much iron. Covers symptoms of hereditary hemochromatosis. Discusses who should be screened and offers reasons not to be screened.

  • There are many types of congenital heart defects. If the defect lowers the amount of oxygen in the body, it is called cyanotic. If the defect doesn't affect oxygen in the body, it is called acyanotic. What are cyanotic heart defects? Cyanotic heart...

  • Adults with congenital heart defects can live long, full, and active lives. There are many things you can do to stay healthy and live well. These include having a heart-healthy lifestyle, preventing infections, and getting regular checkups. You...

  • Your child may have developmental delays as well as other problems that can make children, teens, and adults who have Down syndrome vulnerable to abuse, injury, and other types of harm. You can help manage and prevent these types of problems by...

  • People with Down syndrome usually have some level of independence by the time they become adults. Different types of specialized therapies, counseling, and training can help them learn necessary skills and manage emotional issues. The common types...

  • Children with Down syndrome who do not have severe physical disabilities can learn to dress themselves. Teach your child how to dress himself or herself by taking extra time to explain and practice. Explain what you are doing when you dress your...

  • Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. It helps protect the lungs from diseases such as emphysema and chronic obstructive pulmonary disease (COPD). Some people do not make enough of this protein or they make an abnormal type of AAT, either of which can cause AAT...

  • Huntington disease is a rare condition that causes parts of the brain to break down, or degenerate. It is also called Huntington chorea. The disease causes rapid, jerky body movements and the loss of mental skills ( dementia). Huntington disease can cause personality changes, behavior problems, and memory loss. Symptoms...

  • Discusses blood test that can tell you if you carry rare changed genes that can cause colon cancer, also called colorectal cancer. Covers familial adenomatous polyposis (FAP). Looks at colonoscopy screening. Discusses risks. Includes genetic counseling.

  • A low-protein diet is the main treatment for phenylketonuria (PKU). This is because people who have PKU lack an enzyme to properly process the amino acid phenylalanine, a part of protein. Phenylalanine is present in all protein foods and in some...

  • Cystic fibrosis causes mucus to become thick and sticky, which can clog the lungs and cause serious problems. You can help your child maintain lung function and avoid complications from mucus buildup and blockage by performing an airway clearance technique (ACT). Postural drainage and chest percussion (PD & P) is one of...

  • Acquired von Willebrand disease is a rare bleeding disorder that might be caused by other medical problems or medicines. It prevents blood from clotting properly. It is rarer than the inherited form of von Willebrand disease. Medical problems that might cause acquired von Willebrand disease include: Lymph disorders...

  • Home treatment for sickle cell disease includes steps you can take not only to control pain symptoms but also to prevent some of the complications caused by the disease. These complications include painful sickle cell crises. Have a pain management plan If you and your doctor have developed a pain...

  • Phlebotomy is a procedure that removes blood from the body. Regular phlebotomy treats people who have too much iron in their blood, such as with hemochromatosis, or who are producing too many red blood cells, such as with polycythemia. Removing blood regularly decreases iron levels in the body by reducing the number of...

  • If your baby is born with Down syndrome, you will likely have many questions and strong emotions. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings and plan for your...

  • If your baby is born with Down syndrome, you will likely have many questions and strong emotions. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings and plan for your...

  • If your child who has Down syndrome is between the ages of 1 and 5 years, you will likely have ongoing questions and concerns. Your doctor can help answer your questions and guide you to appropriate resources to help you manage your feelings and...

  • If your child with Down syndrome is between the ages of 5 and 13, you will likely have ongoing questions and concerns. Your doctor can help answer your questions. And he or she can guide you to appropriate resources to help you manage your feelings...

  • If your child with Down syndrome is an adolescent or young adult between the ages of 13 and 21, you will likely have ongoing questions and concerns. Your doctor can help answer your questions. And he or she can guide you to appropriate resources...

  • A familial lipid disorder is a condition that runs in families. It causes very high levels of cholesterol. This condition can cause a person to get coronary artery disease (CAD) while still young. Because familial lipid disorders are rare, your doctor may only suspect one if you have: Very high cholesterol...

  • Guides through decision to have a breast cancer (BRCA) gene test. Includes reasons your doctor might recommend a BRCA gene test. Lists next steps for a positive test. Covers benefits and risks. Includes an interactive tool to help you make your decision.

  • The average woman has a small chance of getting breast cancer and an even smaller chance of getting ovarian cancer. But if someone in your family has had breast or ovarian cancer, your chances of getting those cancers may be higher. And if you have 2 or 3 relatives who have had these cancers, your chances may be even...

  • Health problems sometimes run in the family. That's why it's important to know as much as you can about the health problems of your birth family. This information can help your doctor provide better care. Start with what you know. Then ask your...

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