Hemophilia is a blood clotting disorder that runs in families. People with this genetic disorder, stay at higher risk of incurring injuries and suffering from bleeding. Hemophilia patients possess low levels of factor IX and factor VIII, which are two blood clotting agents found in human body. Current statistics suggest that close to 17,000 US residents are suffering from this disorder. The worst thing about hemophilia is that it is almost an incurable disease; it can be treated only with a treatment called the blood clotting factor replacement therapy. There are some easily accessible herbal remedies that can help in controlling the bleeding and work by supporting the health of our blood vessels. However, you should never use these herbal remedies as replacement of medical therapies. Also, do not forget to consult your physician before trying the herbal remedies for hemophilia. Grape seed extracts: This herbal remedy works by  [...]

A person is said to be colorblind when he cannot see some colors normally. Colorblindness can be of different types; the categorization of color blindness is done based on severity of deficiency in color perception and colors which are undetectable. Some individuals cannot perceive only a single color while some fail to recognize two colors. On rare occasions people suffer from a colorblindness type that does not allow them to see any color. Red-green colorblindness: This is the most frequently occurring type of colorblindness. Individuals with red green colorblindness find it difficult to distinguish between the two colors green and red. Statistics suggest that 1 in every 12 men having ancestors with north European origin is suffering from this form of color blindness. The frequency of occurrence of this vision disorder among women of same ancestry is much less. This is because these women possess  [...]

Progeria is defined as the progressive genetic disorder resulting in rapid aging in children; the disorder begins during the initial 2 years of a child’s life. Studies conducted on this subject have revealed that Progeria is caused by single gene mutations. The name of the responsible gene is LMNA or lamin A. Unlike most other genetic disorders, Progeria does not run in families. Generally, children suffering from this disorder look normal at the time of birth. The signs of Progeria for instance hair loss, slow growth etc start showing up after the child completes 12 months of life. On an average, children with Progeria live for 13 years. However, there are instances when Progeria patients have dies much before reaching the age of 13 or have lived up to 20 years of age. The common causes of death of these children include strokes, heart diseases etc. The most unfortunate fact about this

Thalassemia is a blood disorder which is known to be inherited, i.e. it is passed down from generation to generation. Thalassemia would cause the body and will make the body produce fewer than necessary healthy red blood cells. This would also mean that there is lesser hemoglobin than you will find in a normal person. Hemoglobin is that iron-rich protein which is present in red blood cells. It is the protein that carries the oxygen to various parts of the body. Hemoglobin is also responsible for carrying the carbon dioxide to the lungs, and it is via the lungs that the carbon dioxide gets exhaled. People with thalassemia could have the mild or severe form of anemia. This condition occurs when people have red blood cell levels that are lower than normal or it could occur when there isn’t enough hemoglobin in the red blood cells. Causes of Thalassemia: The human body produces three different types of blood cells; white blood cells, red blood cells and platelets.  [...]

Down syndrome is also known as Trisomy 21. It is a genetic disorder, wherein the child ends up having delays due to the presence of extra genetic material. This will end up interfering with the mental and physical growth of the child. If statistics are to be believed, around one in every 800 children is affected by Down’s syndrome. The Down’s syndrome gets its name from Dr. John Langdon Down, A British doctor, who was the first one to describe or notice the condition. This important discovery, of sorts, happened in the year 1887. In spite of it being discovered early on, the actual cause of this syndrome wasn’t discovered until the year 1959. The Signs: The physical features that work as indicators of this syndrome can vary from child to child. Some children suffering from DS could need a lot of parental attention, other children, however, may be significantly easier to deal with. The common physical features that help identify such  [...]

Understanding Genetic Disorders - An abnormality of any sort in the DNA structuring of a person could lead to a genetic disorder. The abnormality could include anything from a tiny mutation that is present in a single gene or it could appear in a range of an entire chromosome set. Getting Acquainted With WILLIAMS SYNDROME - The Williams Syndrome may not be as popular as Alzheimer's, Down Syndrome, Hypothyroidism or other genetic disorders; which definitely makes it rare. In spite of that, it is important in the context of study. It is generally known to affect the growth of a child; and is responsible for altering his/her physical appearance and overall cognitive development. In individuals suffering from this syndrome, the chromosome 7 is affected; and the gene elastic is almost missing. This gene is responsible for producing a protein that is essential for the blood vessels to get their stretchiness and strength; and this strength is required to last an entire lifetime  [...]

Marfan’s syndrome is one of the many human genetic disorders and it is due to a gene problem in the connective tissues of human beings. Marfans syndrome results because of mutated gene. Since all most of the relatives have sharing of some common genes, this disorder is known to cause the disorder to more then one family member, because of having same mutated gene in family. Also there have been cases which have reported of spontaneous mutations occurring, that is defect not present in their genes, these cases though are very rare. In 19th century, French physician whose name was Antoine Marfan while his practice came across five year little girl patient, who had long and thin limbs, with poor muscles development and spine which was abnormally curved. That was the first case of Marfans syndrome came into notice and thereafter Dr. Marfan’s name has became synonymous with those patients who are affected by same syndrome. Connective tissue which acts as support system  [...]

Although each person shows symptoms of different illnesses and diseases in different ways there are times when the symptoms of mitochondrial disorder may be present. How each person exhibits these symptoms and how severe they will be is dependent on each individual person and their particular circumstances. A couple of factors that may be symbolic of how these symptoms manifest include the severity of the condition and how advanced the condition has become. Unlike most disorders that are passed down based on the sex of the carrier as well as the sex of the child, mitochondrial disorders are passed down only from the mother and can be passed to children of either sex equally. The father of a child plays absolutely no part in the inheritance of these types of conditions. This process is often referred to as maternal inheritance because of the fact that it does only come from the mother. There are many symptoms of mitochondrial disorder including fatigue,  [...]

Mitochondrial disorder also known as mitochondrial disease refers to a genetic disorder that is passed down from a person’s mother. This is also referred to as maternal inheritance because the mutated or defective genes that cause these types of disorders are inherited from the mother alone and the father has no role in this inheritance unlike other inheritances of defective genes in which the father and mother both play a part. Mitochondrial disease refers to a category of conditions that are associated with the mitochondria which are the backbone of the eukaryotic cells. These diseases make up the disorders or conditions that affect the working order of the mitochondria in one way or another because of how these disease are inherited and because mitochondria are so essential to the functionality of the cells within the body. When these diseases present symptoms of neuromuscular diseases they are often called mitochondrial myopathy. Mitochondrial disorder  [...]

Human genetic disorder are generally divided into two categories which are single gene disorders and multifactorial and polygenic or complex disorders. In addition to this single gene disorders are further separated into several categories based on the way in which these genes are passed from parent to child. The different types of single gene disorders include autosomal dominant and recessive genes, x-linked dominant and recessive genes, y-linked genes and mitochondrial genes. Each of these genes is responsible for specific illness or conditions and have the ability to affect any child born of parents with these genes however when the x and y genes come into play only a specific child may be affected depending on which parent has the defective gene and what sex the child is. Autosomal dominant gene disorders only require one copy of the mutated gene in order for the person to develop the illnesses associated with it. This does not mean that the child will definitely  [...]