Chromosomal and genetic disorders

Chromosomal and genetic disorders

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Chromosomal and genetic disorder

Hemophilia

Causes

Hemophilia is a sex-linked disorder that prevents the clotting of the blood properly in the body, which results to a person bleeding more than a normal person. It mostly affects boys who have a fifty-percent chance of getting it if the mother is a carrier. It is caused by lack of platelets, which are sticky blood cells that stop the bleeding by plugging up holes on the torn part. The platelets are responsible for activating various proteins found in the blood called clotting factors. Clotting factor mixes with the platelets to form strong fibers that strengthen the clot and stop the bleeding.

Symptoms

Some of the symptoms include raised bruises on a child’s stomach, chest, back and buttocks when the child begins to crawl and walk; prolonged nosebleeds and excessive bleeding after a surgery operation. Other symptoms include excessive bleeding following tooth extraction, excessive bleeding when person bites down the tongue or lip, blood found in the urine (hematuria) and bleeding from the muscles and joints.

Treatment

It is a lifetime condition without a cure, unless a liver transplant is carried out which is risky and can result into more complications. Another treatment is through replacing the clotting factors using an intravenous line at the hematology clinic or at home by a parent or a nurse. Children with severe hemophilia develop inhibitors that act as antibodies to the clotting factors. They are given a drug called recombinant factor VII that activates the coagulation process directly bypassing the deficiencies. Another method of overcoming the inhibitors is to increase the clotting factors intake in the body in order to increase the body’s tolerance (Kids health, 2012).

Down syndrome

Causes

Down syndrome is a chromosomal disorder that is caused by the child inheriting an extra 21 chromosomes from either parent. At conception, each child inherits twenty-three chromosomes from each parent making it forty-six chromosomes. Some times a child end up inheriting extra 21 chromosome from each parents which results to the child having three 21 chromosomes in their DNA. Translocation, which is attachment of the 21 chromosome into another chromosome especially chromosome 14, is another cause of Down syndrome.

Symptoms

The symptoms range from one person to another, but some are common in most people with Down syndrome. They include a flattened nose and face, short neck, a small mouth with a protruding long tongue, small ears and upwards slanting eyes that have small folds at the inner corner. They victims have white spots present on the colored part of the eye that is iris. Their hands are shot and broad with short fingers and a single crease in the palm. They have poor muscle tone and loose ligaments. Their development and growth is slow and do not achieve the average height and developmental milestones.

Treatment

Down syndrome is untreatable but can be managed. Any medical condition that arises due to this disorder is treated through corrective surgery. For example, heart disorders, stomach problems and eye and ear defects. Regular check ups should be taken to screen for any other medical condition (Heyn, 2012). People suffering from Down syndrome should be enrolled for early intervention programs, which include speech, occupational and physical therapy. Children that have Down syndrome need to be part of a lovely family, society and attend preschool where they will learn and make discoveries in a supportive and safe environment. This will enable them to reach their potential.

Sickle cell anemia

Causes

Sickle cell anemia, which is genetic triggered disorder, is inherited by children from their parents where by the red blood cells form abnormal crescent shapes. It results from an abnormality of a type of hemoglobin called hemoglobin S. Hemoglobin, which is a protein inside the red blood cells, carries the oxygen, and when oxygen reduces in the body this abnormal hemoglobin S makes the shape of the red blood cells to change. These crescent cells therefore carry less blood to the body and some times are stuck in the small vessels, break easily, and interrupt the healthy blood flow. For a child to develop the ailment, he or she must inherit hemoglobin S gene from both parents.

Symptoms

The symptoms vary though the recurrent ones are abdominal pains attacks, bone pain, breathlessness, delayed growth and puberty, fatigue, paleness, fever, rapid heartbeat, jaundice and ulcers on the lower legs. Other symptoms include chest pain, frequent urination, strokes, poor eyesight, frequent urination, painful and prolonged erection and skin ulcers.

Treatment

There is no cure but treatment is offered to manage and control the symptoms. Folic acid supplements are taken to produce more red blood cells. When someone has a crisis, it is treated through blood transfusion, pain medication and plenty of fluids. Other treatment methods include Hydoxyurea, a drug used to minimize pain during any crisis episode (Medline plus, 2012). Antibiotics are taken to prevent bacterial infections that are common in individuals with sickle cell anemia.

References

Heyn, S., N. (2012). Down Syndrome. Retrieved From http://www.medicinenet.com/down_syndrome/page6.htm

Kids health. (2012). Hemophilia. Retrieved from http://kidshealth.org/parent/medical/heart/hemophilia.html.

Medlin plus. (2012). Sickle cell anemia. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/article/000527.htm