Comprehensive Health & Medicine Resource

Sickle cell anemia is one type of hereditary disorder that is a serious disease. It is characterized by the body making C shaped red blood cells, or sickle shaped. An abnormally shaped sickle cell is hard to move through blood vessels in the body. These cells are stiff, sticky and are apt to clump together and get stuck in the blood vessels. This is caused by them containing an abnormal hemoglobin which causes the odd shape.

Normal red blood cells are of a disc shape that is similar to a doughnut without the hole in the middle. These normal blood cells travel through blood vessels easily because they contain the hemoglobin protein. This protein is rich in iron and also give the blood cell its rich, red color. In addition, it carries oxygen from the lungs and to the rest of a person’s body.

When the sickle cells clump together, they block the flow of blood in the blood vessels that branch off to the organs and limbs of a person. These blocked vessels cause a number of issues such as pain, organ damage and life threatening infections.

Sickle cell anemia is a disease that people are born with. They inherit it from both parents with the sickle cell trait. It is a disease for life and there is no cure. Parents who have the trait can pass this gene to their offspring but it takes two parents with the trait to cause the disease. Some children have the trait but not the disease and this comes from getting one normal gene from one parent and the sickle cell trait from the other parent.

Even though there is no cure, there are treatments that help in some cases such as bone marrow transplants. Proper medical care and good health helps as well.

Neurofibromatosis is a disorder that hereditary. It is passed down through the genes of the parents and is a condition that causes tumors to form on nerve tissue. This can cause skin and bone abnormalities that affect a person’s nerves, spinal cord, brain, skin and various systems throughout the body.

Neurofibromatosis can be pinpointed in childhood, sometimes as early as infancy with children that have advanced cases. Some children have severe effects from the condition but some have very few issues whatsoever.

While there is no cure for Neurofibromatosi, tumors that form can be removed from the body and the complications that arise from these tumors can be treated. About half of the children who have Neurofibromatosi may have learning problems.

Neurofibromatosis can be diagnosed based on a number of different factors and findings. Some of the symptoms can be Lisch nodules on the irises of the eyes, skeletal abnormalities, cafe-au-lait spots on the skin in certain sizes, locations and numbers, family members with NF1 and freckles in the groin area or under the arms. However, for a definitive diagnosis, the child must have at least two of the symptoms.

Complications from neurofibromatosis can vary but is not limited to scoliosis, high blood pressure, early or delayed puberty, speech problems and impairment, seizures and optic nerve tumors.

Mild cases of neurofibromatosis will not necessarily lead to more severe symptoms in the future and these children, when diagnosed early, can lead normal, healthy lives typically. In fact, about 60% of people diagnosed with the disorder only have mild symptoms of the disease and lead healthy lives.

There are two types of neurofibromatosis; NF1 and NF2. The NF1 disorder is the most common and is known as von Recklinghausen disease. NF2 is much more rare than NF1 and tends to cause hearing loss and balance problems in those affected.

Cri du Chat syndrome is a genetic disorder that is quite rare. It only occurs in about 1 in 20,000 to 50,000 births. It is a disorder that affects the nervous system and larynx and gets its name from the baby’s cry in those affected. The newborn will sound similar to a kitten and this is due to the problems with the larynx. Most children will get better by the time they are 2 years of age. However, there are issues with the disorder that can cause problems.

These issues include a low birth weight, poor motor skills, uncommon facial traits, feeding issues due to the problems with sucking and swallowing, speech delays, motor and cognitive delays, and behavioral problems. The behavioral problems include hyperactivity, repetitive movements and even aggression. Some infants are born with heart defects and some believe it to cause severe learning disabilities in those with the syndrome.

What causes Cri du Chat is a chromosomal problem that occurs when a piece of chromosome 5 is missing. While most people do not inherit this syndrome, about 10 percent of the cases do. In these 10 percent, the mother or father carries a chromosomal rearrangement called a balanced translocation, where no genetic material is lost or gained. Most cases are believed to happen during the development of the egg or sperm.

While there are no known treatments, parents can have genetic counseling to be sure that one of the parents has the rearrangement of chromosome 5.

The unique crying does dissipate over time, however some children may have mental retardation or a host of other issues with Cri du Chat. There is also no preventative measures available. However, genetic counseling is again, a good idea for parents to consider to be sure that they are not carrying this trait.

Hemophilia is bleeding disorder that is rare. This disease is usually hereditary, meaning that it is passed on by a parent with the gene. What hemophilia means is that the person does not have any clotting factor or very little clotting factor. This is the protein that is required for normal clotting. There are different types of clotting factors and those proteins are what works with platelets in the body to help the blood clot properly.

Platelets are tiny blood cell portions that are formed in the bone marrow, which is a tissue in the bones with a sponge like density. Platelets are what play a major role in the clotting factor of a human being. When a blood vessel or blood vessels are damaged, the clotting factors are what help the platelets bind together to plug up breaks and cuts at the site of the injury. This helps stop the bleeding. When a person does not have the necessary clotting factors, blood clotting that would normally take place cannot form. There are some that have the hemophilia disorder who receive clotting factor injections to help stop bleeding.

There are typically two types of hemophilia; hemophilia A and hemophilia B. Persons with hemophilia A are missing the clotting factor VIII or have very low levels of this factor. The persons who have hemophilia B have a non-existent or low level of clotting factor IX. On average, 9 out of 10 people have the hemophilia A disorder.

Although rare, some people can develop hemophilia in their lifetime if their body forms antibodies, known as proteins, to the clotting factors in their bloodstream. This is highly unlikely since usually hemophilia is inherited.

Hemophilia can be at different levels of seriousness. From mild to severe and in between, it all depends on how much of the clotting factor is in the blood.

Cystic fibrosis is an inherited and chronic disease that affects approximately 70,000 people worldwide. It is caused by a defective gene and the gene’s protein product. What happens in cases with cystic fibrosis is that the person’s body creates an abnormally thick and sticky mucus that obstructs the pancreas and hinders natural enzymes from aiding the body in breaking down food and leads to life threatening infections of the lungs by clogging the lungs with this mucus. This disease can lead to early death and progressive disability in those affected by it.

There are many different symptoms that are characteristic of cystic fibrosis such as a persistent, phlegm filled cough, shortness of breath and wheezing, extremely salty-tasting skin, weight gain or poor growth even with an appetite, difficulty in bowel movements or frequent, bulky stools.

Cystic fibrosis is caused by a mutated gene. This gene is the protein cystic fibrosis transmembrane conductance regulator (CFTR) and is a must for regulating digestive juices, sweat and mucus. It is considered an autosomal recessive disease because most people have two copies of this gene, people with cystic fibrosis have a situation where neither gene works correctly. This is because this gene is what is needed to prevent cystic fibrosis.

Genetic testing can be performed at birth to see if a baby has cystic fibrosis but later in life a sweat test can be a way to test non-infants for the disease.

There are a number of treatments to aid persons affected by it, although there is no cure for the disease. The use of antibiotics helps with clearing up the numerous lung infections that can occur. There are also other treatments such as aerosolized and a hands-on technique performed by a respiratory therapist. Other methods have been invented such as the Biphasic Cuirass Ventilation and intrapulmonary percussive ventilator.

So you’ve just found out you’re pregnant. It’s one of the best times of your life. You are happy and having a lot of fun telling your family and friends about it but there is something weighing on your mind a bit and that’s the health of your baby. Will it be OK? Will it be healthy? What kind of health will it have throughout the rest of it’s life? But then you remember that you live in an age where there are fewer questions than there are answers. Every mystery can be solved.

Genetic research is big business in this country. Genetic testing can tell you everything from how much weight you are prone to gain to how much you should keep an eye on your blood pressure in your thirties. There is virtually nothing that is left to the imagination anymore. As a matter of fact it can help in ways that you never knew possible.

With the case of the new born baby you can have it genetically tested to find out if the baby could suffer from the effects of juvenile diabetes. This disease is difficult and affects many who contract it but if you are aware of the risk factors from the day your baby is born, you can start tailoring his diet to combat it as best you can or to at least introduce your child to a diabetic friendly menu so that when it is contracted it won’t come as a shock and your child will be more likely to stick with the diet.

Genetic testing can also help your pharmacist as it will be able to point out prescription drug side effects that not even the pharmacist can see. The world of genetics is making the world of medicine easier every single day.

Certain berries have been found to keep the brain healthier and more alert. These berries, such as acai berries, strawberries and blueberries, work in a unique way that was unfounded until recently. What the berries do is activate the brain’s natural cleaning mechanism, which gets rid of and recycles proteins that are toxic. These proteins have been linked to mental decline and age related memory loss such as Alzheimer’s Disease.

What happens when we age is that our body’s ability to protect against inflamtion and oxidant damage. When this takes place, the body cannot fight as well against certain diseases such as cancer, heart disease, degenerative brain diseases and age related diseases.

Certain vegetables, nuts and fruits have a natural compound called polyphenolics, which has an anti-inflammatory and antioxidant effect. These help compounds help to combat age degeneration and decline.

Tests done on lab rats have shown that when fed the high antioxidant fruits, the age decline process in remembering and learning new things had reversed. The nerve functions had actually become more efficient with the diet.

When we age, debris builds up in microglia cells and instead of removing and recycling this debris, the build up causes degeneration. This happens naturally in the aging process but the foods with a high content of polyphenolics act as a cleaning crew, to rid the brain cells of the disabling debris. They effectively restore this cleaning crew process or housekeeping, as some would call it.

More evidence has shown that other vegetables, nuts and fruits are a good source of this compound. Fruits and vegetables with rich, dark colors are due to the pigments called anthocyanins and contain a plethora of antioxidants and healthy, natural chemicals. Whole fruits are the best way to consume the healthy benefits but even frozen fruits can aid in the process.

A lot of hereditary diseases are passed on within families. These diseases can skip a generation or many generations but all have one thing in common; they are determined by genes whether a person will inherit that trait. Genes are units of the material that make up heredity similar to a blueprint. Just like a person can inherit red hair or blue eyes from one parent or both, these genes make up the same formula for conditions and diseases.

Thousands of genes are found on chromosomes, which are a structure that has thread-type features. The chromosomes are situated in the nucleus of a cell, which is the center of the cell. Chromosomes and genes exist in duos and an offspring will get their traits by each parent contributing one chromosome and one gene from their own pair of chromosomes and genes.

Most of the time these genes lend to normal traits in offspring. At times though, a gene can become mutated and changed from the original form. These are called mutant genes and their origin is not fully known in the scientific world. Many mutant genes do not cause harmful effects but often a gene that has mutated will cause a problem in the body such as a disorder caused by this gene. It is even possible for a child to be the first member of a family with the genetic disorder. This happens when a gene spontaneously mutates and this can happen in any generation of the family.

Along with gene mutations, the way that a genetic disorder or trait is expressed varies as well. There is a patter that is known as autosomal dominant inheritance. This is where the inheritance is linked to a chromosome that is not the determining link to the sex of the offspring.

Parents of a child have no control over the genes that are passed on to the offspring.

Factor V Leiden is a disorder that causes hypercoagulability, and a member of thrombophilia. Thrombophilia is a word that stands for a host of genetic conditions which make the tendency of blood to clot increasingly more prevalent. When the blood clots at a high frequency, this can lead to life threatening and serious complications for the person with the clot. Obviously, it also depends on where the blood clot is located in the body as to the severity of the problem.

Deep vein thrombosis is a clot in the extremities such as the legs. These can cause pain to the host and is called superficial thrombophlebitis or otherwise known as deep vein thrombosis. Clots that are in other parts of the body can be life threatening. These are clots found in the veins of the person’s major organs. These organs include the liver, lungs and brain. When a person has a clot in these areas it is called thrombophilia and can cause a life threatening situation as well as clots in the arteries can cause heart attack or stroke in the patient.

There is a variety of tests that can be performed so that persons with thrombophilia wishing to become pregnant can avoid such problems and complications as preclampsia, eclampsia and stillbirth. There are also medical treatments that can be utilized to help deter complications from thrombophilia.

In a person with Factor V Leiden, these clots are located in the veins only in most cases. When the clots are located in the veins, they can break off and cause a pulmonary embolism once they travel to the heart or lungs. However, it is rare for people with this disorder to have a blood clot in the arteries, which can cause strokes. Women with the disorder have a high risk of still birth and miscarriage.

Celiac disease is a disease that causes the inability to digest gluten. Gluten is a protein that is found in rye, barley and wheat. The issues faced by those with celiac disease is that these grains are used in a plethora of things we eat such as bread, cookies, beer, pasta and a host of other foods. While oats are not part of the grains that have gluten, due to crop rotation in the United States, oats are contaminated with gluten, making them dangerous to consume as well as the other oats mentioned.

When a person who has celiac disease consumes a product or food with gluten, the body starts destroying normal tissues such as the villi in the small intestine because an autoimmune response is triggered. It only takes a small amount of gluten to cause intestinal issues such as reflux, gas, bloating and constipation.

There is a couple of ways patients can be tested for the presence of celiac disease. A blood test is one way but it can give back false positives so the most fail-safe way of testing accurately is with a small intestine biopsy. Once a patient has been diagnosed with celiac disease they must not consume gluten ever again. A gluten free lifestyle is a must in order for the body to heal from its harmful effects. Otherwise, an attack can occur even with a small amount of gluten that is consumed.

Many restaurants and stores now offer gluten free products so that people living with celiac disease can enjoy some of the beloved foods that were off limits in the past. These can be items such as gluten free breads, pizzas, pastas and any product made from grains. The Food and Drug Administration also requires labeling that has any foods that allergens and may harm people who consume them.