Archive for August, 2010

Definition

Blood clotting factors are twelve, all very important. When one of the twelve factors not adequately perform their work, others can not work together to form a clot and inhibit bleeding. It is true that hemophilia is a disorder of the clotting of blood, hereditary, by which their training takes longer to generate than normal and people who suffer lack the ability to stop bleeding. The peculiar name of “Hemophilia” means “Love of blood.” The romantic memory of the history of Russian monarchs Alexandra and Czar Nicholas II and the condition of his son, Alexis, contributed further to define hemophilia as a disease of kings ” but it is known that one inevitably affects of 10 thousand men , without distinction of race or social strata. It is passed from father to son, so it is a sex-linked inherited abnormality. There are several types of hemophilia, but the most common and best known include: Hemophilia A – factor VIII deficiency. Hemophilia B – factor IX deficiency. A hemophiliac who suffer from hemophilia A or B does not bleed faster than others, but they bleed longer than usual because the process of coagulation is not normal.

Causes

Hemophilia types A and B is an inherited disease that is transmitted by a gene located on chromosome X. Females have two X chromosomes, while males have one X chromosome and one Y chromosome A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes, and there is a 50 percent chance that she may pass the defective gene to their male offspring. Men with hemophilia do not pass the gene to their sons. Generally, women are carriers of hemophilia A but do not suffer. Hemophilia B, also transmitted by sex-linked inheritance is less common than A. In approximately one third of hemophilia cases, there is no family history of the disease. These cases are due to a new or spontaneous development of the defective gene in women.

Symptoms

The most common symptoms of hemophilia is excessive, uncontrollable bleeding because of the missing clotting factor or is at low levels in the blood. The severity of symptoms depends on the degree of deficiency of clotting factor. Hemorrhages are characteristic of this disease and may occur without apparent cause. The most common symptoms of hemophilia are: Bruises can occur from blows little overwhelming, which can generate a large hematoma (a collection of blood under the skin, causing swelling). Spontaneous bleeding the tendency to bleed from the nose, mouth and gums with minor trauma or by regular brushing teeth, is often a sign of hemophilia. Bleeding into a joint Hemarthrosis (bleeding into a joint) can cause pain, immobility, and eventually deformity if not treated the right way. This is the most common complications due to hemophilia bleeding. These joint bleeds can lead to chronic arthritis pain, deformity and crippling with repeated occurrences. Bleeding into the muscles Bleeding into the muscles can cause swelling, pain and redness. Swelling from excessive blood in these areas can cause increased pressure on tissues and nerves in the area, causing damage and / or permanent deformation. Bleeding from injury or cerebral hemorrhage the injury or spontaneous bleeding in the brain is the most common cause of death in children with hemophilia and the most serious bleeding complication. Other sources of bleeding Blood in the urine or stool may also be a symptom of hemophilia. The wounds, dental extractions and surgeries cause prolonged bleeding.

Diagnosis

In addition to a complete medical history and physical examination is necessary to conduct a series of laboratory tests to evaluate the clotting process, including the clotting time, and also DNA testing. Also it determined in plasma levels of Factor VIII and IX to evaluate the severity of the deficiency.

Chromosomes are molecules biochemical DNA (Deoxyribonucleic acid) attached to proteins called histones. During cell division the chromatin (DNA dispersed in the cell nucleus) is concentrated and tightly wound around a frame protein (histones)     forming compact bodies called chromosomes.

It usually consisting of two arms called chromatids, which join via a lower density area and a center called the Centro mere. Separate components at the Centro mere are called arms (corresponding to half of a chromatic).

The chromosome size may range between 0.2 and 5 μm (micrometers) in length with a diameter of between 0.2 and 2 micrometers. The normal length of the chromosomes of mammals varies between 4-6 micrometers.

A micrometer equals one thousandth of a millimeter. (A millimeter divided into thousand parts)

In the metaphase chromosomes are duplicated chromatids (sister chromatids) and joined at the centromere. During anaphase has only one set of chromatids.

Normally there are 46 chromosomes in each human cell.

They are like a series of cookbooks. Each chromosome or cook-book contains thousands of recipes that are pieces of information or instructions.

These instructions or recipes are called “genes.” Therefore, the chromosomes are packages of genes, which direct the body’s development.

For example, there are genes that tell whether a person will have blue or brown eyes, brown hair or blond.

A gene also encodes and carries information of a specific product, such as a protein. This protein is involved in a specific process for determining a particular trait or characteristic.

All information that the body needs to work is of the chromosomes. The chromosomes contain the blueprint for growth and development.

Scattered among the 23 pairs of chromosomes are about 30,000 genes. Even a very small part of a chromosome can contain different genes.

The exact location or even the exact number of all genes is still unknown. (See: Genetic map of human genome). Studies   chromosomes do not include a detailed assessment of each gene.

Chromosomes come in pairs. One member of each pair comes from the father’s sperm cell and the other member of the pair, comes from the egg cell of the mother.

In other words, the baby receives half its genetic material of the mother and half from the father.

The sex chromosomes are usually placed next to other chromosomes. Children usually have one X and one Y chromosome, while girls have two X chromosomes this picture is called a “karyotype.”

Genetically transmitted diseases

Failures or anomalies in the genetic sequence are due to various disorders and diseases of genetic transmission, among others, are:

Glaucoma

It occurs in individuals who have a gene (particle chromosome) dominant feature. This eye disease is characterized by excessive intraocular pressure that causes progressive loss of visual field and   view.

Anemia facilgorme

Affects a large number of black people. In this disease the hemoglobin (oxygen carrier in the blood) of red blood cells are entirely replaced by abnormal hemoglobin called S. Therefore, red blood cells that contain adopt an S-shaped instead of disk, and with it are less able to     carry oxygen and they can block blood vessels of some     organs. As a result, individuals who suffer from anemia have     severe and usually fatal.

Hemophilia

It is transmitted by a recessive gene linked to chromosome X. Individuals     hemophilia tend to bleed abnormally, either spontaneously or as     minimum of wounds . The man can not transmit the hemophilia     disease to their sons, but all his daughters are healthy carriers. Each     son of a female carrier has a 50 % risk of being born with hemophilia.

Down Syndrome

They have 47 chromosomes (chromosome 21 is repeated); the individual has a set of defects, including severe mental retardation, muscle weakness and increased susceptibility to leukemia.

Turner Syndrome

It occurs when a woman has only 45 chromosomes (humans normally have 46 chromosomes), this determines that height is very low and does not develop secondary sexual characteristics typical of females. In addition, sexual organs never reach sexual maturity.

Klinefelder Syndrome

It occurs in one out of every thousand men, which are 47 chromosomes (they have an extra sex chromosome). Patients are sterile because the testes are unable to produce sperm. They also often suffer delay     mental.

Number of Chromosomes in different species

Dog

Each cell – dog or other animal, contains a kernel that is a “ribbon” called chromosomes. Their number is constant in each species, and dogs have 78, divided into 39 pairs.

Man

In man there are 23 pairs i.e. has 46 chromosomes

Cat

In the cat there are 19 pairs of chromosomes, therefore has 38 chromosomes.

Fruit Fly

It has four pairs, that is has 8 chromosomes

Frog

It has 13 pairs, 26 chromosomes

Horse

There are 33 pairs, or has 66 chromosomes

Dove

It has 40 pairs, has 80 chromosomes

Rooster

It has 39 pairs of chromosomes, or 78 chromosomes

Mouse

He has 20 pairs of chromosomes, 40 chromosomes in total

Rat

There are 21 pairs of chromosomes, 42 chromosomes

Hamster

There are 22 pairs of chromosomes, or has 44 chromosomes

Rabbit

There are 22 pairs or 44 chromosomes

Pig

It has 18 pairs, 36 chromosomes

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Common Forms of Inheritance
Each child has two copies of every gene in its body: one from the father and one from the mother. The genes that make each pair containing instructions for a dominant or recessive trait. Sometimes genes are altered for some reason and there is a medical condition.

Autosomal dominant
If a parent has the gene for an autosomal dominant condition, there is a probability of 50 percent (a probability of two) that the child has the same condition. Dominant disorders tend to be quite variable, with symptoms that can be null or severe.

Some conditions transmitted by autosomal dominant inheritance are:

• High cholesterol Family
• Huntington’s disease , a progressive nervous system disorder
• Some forms of glaucoma , which causes blindness if not treated
• Polydactyly: existence of extra fingers on the hands or feet
• Marfan syndrome , which affects the connective tissue (the connective tissue supports and connects the body’s structures , tendons , ligaments , cartilage and bone are examples of connective tissue)

Autosomal recessive
If both parents carry the same recessive gene that can cause a birth defect there is a likelihood of four of each of their children inherit the problem. If only one parent transmits the gene for the disorder, the normal gene received from the other parent will prevent the condition to manifest.

Autosomal recessive disorders are often severe and can lead to premature death. Some conditions transmitted by autosomal recessive inheritance are:

• sickle cell anemia , a blood disease that primarily affects African-Americans and Hispanic
• Tay -Sachs disease , which causes mental retardation and death , mainly in people of Eastern European Jewish or French Canadian
• Cystic fibrosis, a disorder of the lungs and digestive system that primarily affects Caucasian people of northern European descent
• Phenylketonuria (PKU ), a metabolic disorder that primarily affects Caucasian

Inheritance X -linked recessive
The X and Y chromosomes that determine sex. Normal women have two X chromosomes and males one X and one Y chromosome A disorder caused by an abnormal gene on one chromosome known as X -linked disorder X -linked or sex.

A seemingly normal mother with an abnormal gene on one of her X chromosomes has a probability of 50 percent (one out of two) to communicate it to his son. A woman who inherits an X chromosome with a gene for a sex -linked disorder usually has no symptoms of the disease since it has an X chromosome reserve with a normal copy of the same gene. However, men who inherit an X chromosome with a gene for a sex-linked disease have no second X chromosome reserves and, therefore, suffer from the disease.

Some conditions that are transmitted through inheritance X-linked recessive are:

• Hemophilia, in which the blood lacks a substance needed for blood clotting
• Colorblindness of the red and green
• Duchenne muscular dystrophy, which causes muscle weakness and death

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The role of physical therapy in hemophilia is still unknown to many health professionals. In this disease, where the protagonist has always been the hematologist, physical therapy also plays a role. Musculoskeletal problems that cause repeated spills can be alleviated from our field. A proper rehabilitation therapy can restore the patient greater independence and functional ability and, consequently, increase their quality of life.

Hemophilia is a bleeding disorder, hereditary, monogenic, recessive sex-linked. Its cause is deficiency of factor VII or blood clotting factor IX. This deficiency is the cause of cerebral hemorrhage that may be more severe, and / or musculoskeletal, with greater consequences. It is in these musculoskeletal injuries, rehabilitation treatment which can bring great solutions. Biggs and Mcfarlane already in 1962 published a series of works which proposed a new approach to treatment, emphasizing the value of the orthopedic field. Hemophilia, like all diseases, receives better treatment from a multidisciplinary perspective and the physiotherapist is essential in this team, always accompanied by appropriate hematological treatment.
The most common musculoskeletal injuries in hemophilia are the hemarthrosis, synovitis and muscle bruising. The patient ends up suffering a hemophilic arthropathy and consequently, all functional disorders and disability that entails. The hemarthrosis (blood intra-articular) are common in elbows, ankles and knees. The etiology may be trauma or spontaneous (unexplained), and severity is usually related to the intensity of the trauma. This deposit of blood causes an intra-articular synovial hypertrophy, which often lead to a new bleeding. This causes bleeding episode most of the time hemophilic synovitis. Recurrent intra-articular hemorrhage and hemosiderin iron deposits in the joint, which produces an inflammation of the synovium with the same physiological changes. As a result, an alteration in the nutrition of cartilage and the possibility are causing further bleeding. Another common injury is the muscle hematomas. The bleeding continues until suffering intramuscular pressure equals the pressure vessel intravascular injury. If the amount of blood exceeds the ability of phagocytes to absorb, is encapsulated and forms a cyst. This can evolve into a hemophilic pseudotumor, which can invade and damage nearby tissues or evolve and form an abscess.

The aims of hemophilia physical therapy in patients are broad. Relieve pain and sensory disturbances, helping the reabsorption hemorrhagic and inflammatory process, get a proper physical condition, improve their quality of life and prevent and treat injuries and after you might have. The techniques used are also diverse and range from exercise -sports for patients without lesions, all kinesitherapy techniques, thermotherapy, electrotherapy, magnetic therapy, laser therapy, hydrotherapy and ultrasound that we use every day in our professional activity. Each of these techniques pursues a specific objective, from the removal of the hematoma to improve mobility. It is noteworthy that each joint has its peculiarities when making a treatment, and the existence of orthoses, also specific to each joint.

Hemophilia is a common pathology in the rehabilitation services, but we must not forget that it exists. Like many other diseases go unnoticed in the broad spectrum of diseases that we usually deal with, but why not be left untreated. Hemophilia physical therapy are done by professional and ethical obligation to continue training for life. Investigate what you know, study what has been forgotten and never forget that there is always a treat, even if the treatment of consolation.

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