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List of X-Linked Diseases & Sickle Cell Anemia

by
author image Lisabetta DiVita
Lisabetta Divita is a physician whose love for writing flourished while she was exposed to all facets of the medical field during her training. Her writings are currently featured in prominent medical magazines and various online publications. She holds a doctorate in medicine, a master's in biomedicine, and a Bachelor of Science in biology from Boston College.
List of X-Linked Diseases & Sickle Cell Anemia
Sickle cell anemia is a red blood cell disorder. Photo Credit Vladimir Nenov/iStock/Getty Images

Overview

Sex-linked disorders, also known as X-linked diseases, refer to defects in the X chromosome that are inherited and cause certain diseases. According to MedlinePlus, X-linked diseases typically are most severe in males as they only have one X chromosome while females have two X chromosomes. Diseases such as sickle cell anemia can also be inherited through autosomal (non-sex) chromosomes. X-linked diseases and sickle cell anemia are managed in various ways.

Fragile X-Syndrome

Fragile X-syndrome is an X-linked disease that serves as the most common form of mental retardation in males, says MedlinePlus.

Specific symptoms of fragile X syndrome include hyperactivity, a large body size, a prominent jaw with a large forehead or ears, large testicles and avoidance of eye contact.

Specifically, fragile X-syndrome is due to an alteration in the FMR1 gene on the X chromosome.

Unfortunately, no treatment exists to manage fragile X-syndrome but education and training can be beneficial to fragile X-syndrome sufferers.

Becker's Muscular Dystrophy

MedlinePlus says that Becker's muscular dystrophy is a condition in which the leg and pelvic muscles become weakened over time. MedlinePlus says that Becker's muscular dystrophy affects three to six out of every 100,000 males in the United States.

Specific symptoms of Becker's muscular dystrophy include fatigue, a loss of balance, trouble walking as a result of leg or pelvic muscle weakness, frequent falls and loss of muscle mass. This disease can also lead to a lack of coordination, loss of balance and difficulty breathing. Symptoms of Becker's muscular dystrophy typically occur in people who are 12-years-old or older.

No treatment exists for Becker muscular dystrophy sufferers. Steroid medications can ease the symptoms, however, while physical therapy can help strengthen muscles and wheelchairs and leg braces can help with mobility.

Sickle Cell Anemia

Unlike Becker's muscular dystrophy and fragile X-syndrome, sickle cell anemia is an autosomal recessive inherited disorder in which both parents pass on the defective gene to their child. This is a disease in which the red blood cells are sickle in shape and can obstruct blood vessels.

Symptoms of sickle cell anemia include low levels of red blood cells (anemia), fatigue, shortness of breath, yellowing of the skin and bone, chest, stomach or joint pain. Sickle cell anemia can also lead to frequent infections, delayed growth, pale skin, swelling of the hands or feet and face, arm or leg weakness.

Antibiotic medications such as penicillin, over-the-counter pain medications and hydroxyurea can be used to treat sickle cell symptoms. Penicillin can be used to manage infections and hydroxyurea can be used to reduce pain as it promotes an increase in fetal hemoglobin, an oxygen-carrying component in blood. Blood transfusions, oxygen therapy and bone marrow transplant are other treatment methods for sickle cell anemia.

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