HEMOPHILIA
Source: http://www.ygyh.org/hemo/whatisit.htm
Incidence:
Hemophilia is a sex-linked disorder that affects males of all races and ethnic groups.
About 1 in 4,000 males are born with the disorder.
Females can have the disorder but it is significantly rare.
Cause:
Hemophilia occurs when a person has a mutation in one of the clotting factor genes. Approximately 90% have a mutation in the Factor VIII gene (hemophilia A), 9% have a mutation in the Factor IX gene (hemophilia B), and 1% have a mutation in another clotting gene.
Symptoms:
People with hemophilia bleed longer because their blood does not clot well. Without treatment, a person with severe hemophilia can bleed to death. With treatment, internal bleeding in the joints is the most problematic complication, because it leads to painful arthritis.
Treatment:
People with hemophilia inject themselves with purified clotting factors to prevent or stop bleeding episodes. Additional treatment is necessary if the persons immune system attacks the injected clitting factors
Testing and Screening:
A physician will use several blood tests to rule out other blood disorders before diagnosing hemophilia. The final test determines which factor is responsible and the factor's activity level. Genetic testing can uncover carriers and people with mild hemophilia.
Source: http://www.ygyh.org/hemo/whatisit.htm
Incidence:
Hemophilia is a sex-linked disorder that affects males of all races and ethnic groups.
About 1 in 4,000 males are born with the disorder.
Females can have the disorder but it is significantly rare.
Cause:
Hemophilia occurs when a person has a mutation in one of the clotting factor genes. Approximately 90% have a mutation in the Factor VIII gene (hemophilia A), 9% have a mutation in the Factor IX gene (hemophilia B), and 1% have a mutation in another clotting gene.
Symptoms:
People with hemophilia bleed longer because their blood does not clot well. Without treatment, a person with severe hemophilia can bleed to death. With treatment, internal bleeding in the joints is the most problematic complication, because it leads to painful arthritis.
Treatment:
People with hemophilia inject themselves with purified clotting factors to prevent or stop bleeding episodes. Additional treatment is necessary if the persons immune system attacks the injected clitting factors
Testing and Screening:
A physician will use several blood tests to rule out other blood disorders before diagnosing hemophilia. The final test determines which factor is responsible and the factor's activity level. Genetic testing can uncover carriers and people with mild hemophilia.
Sickle Cell Disease
Source: http://www.ygyh.org/hemo/whatisit.htm
Incidence:
Sickle cell disease is the most common single gene disorder in african americans, affecting one in every 375. Globally, a quarter of a million children are born with the disease each year, mainly in Africa, the Mediterranean, Arabia, and South Asia.
Cause:
Sickle cell diseases include three distinct types. Sickle cell anemia, SC disease, and S[] disease. They are caused by a mutation in a blood protein called beta globin. The mutation leads to changes in the shape. and behavior of the red blood cells. The sickled, stiff and sticky red blood cells of sickle cell disease cause severe organ damage and intense pain.
Symptoms:
Pain associated with blocked blood vessels is the most obvious symptom, and can be severe enough to warrant hospitalization. The blocked blood vessels frequently lead to spleen, lung, and heart damage and stroke. Sickle Cell also causes anemia, which leads to fatigue.
Treatment:
A bone marrow treatment is the only available cure, but it is a high risk operation. Although it has been successful in severely affected children, adults have a tendency to reject the transplant. The drug hydroxyurea helps to prevent or lessen sickle cell's complications; blood transfusions and narcotics for pain also help to alleviate the symptoms.
Testing and Screening:
In mosts states, newborns are screened for hemoglobin disorders, including sickle cell. The screening test determines which hemoglobin types each each child makes. A child with sickle cell makes hemoglobin S instead of the usual hemoglobin A.
Source: http://www.ygyh.org/hemo/whatisit.htm
Incidence:
Sickle cell disease is the most common single gene disorder in african americans, affecting one in every 375. Globally, a quarter of a million children are born with the disease each year, mainly in Africa, the Mediterranean, Arabia, and South Asia.
Cause:
Sickle cell diseases include three distinct types. Sickle cell anemia, SC disease, and S[] disease. They are caused by a mutation in a blood protein called beta globin. The mutation leads to changes in the shape. and behavior of the red blood cells. The sickled, stiff and sticky red blood cells of sickle cell disease cause severe organ damage and intense pain.
Symptoms:
Pain associated with blocked blood vessels is the most obvious symptom, and can be severe enough to warrant hospitalization. The blocked blood vessels frequently lead to spleen, lung, and heart damage and stroke. Sickle Cell also causes anemia, which leads to fatigue.
Treatment:
A bone marrow treatment is the only available cure, but it is a high risk operation. Although it has been successful in severely affected children, adults have a tendency to reject the transplant. The drug hydroxyurea helps to prevent or lessen sickle cell's complications; blood transfusions and narcotics for pain also help to alleviate the symptoms.
Testing and Screening:
In mosts states, newborns are screened for hemoglobin disorders, including sickle cell. The screening test determines which hemoglobin types each each child makes. A child with sickle cell makes hemoglobin S instead of the usual hemoglobin A.
Cystic Fibrosis
Source: http://www.ygyh.org/hemo/whatisit.htm
Inheritance:
Cystic fibrosis is a recessive disorder. That is, a person gets cystic fibrosis only when he or she inherits two copies of the mutated gene, one from each parent.
Symptoms:
Children should be tested for cystic fibrosis if they have persistent diarrhea, smell and greasy stool, frequent pneumonia, chronic coughing, salty skin, or poor growth.
Incidence:
CF affects about 1 in 2,500 births in the U.S. and it affects males and females equally. About 5% of the U.S. population are unaffected carriers of the disorder. CF is most common in Caucasians ( 1 in 3,300) and some Native Americans ( Pueblo: 1 in 4,000; Zuni: 1 in 1,500). It is less common in Americans of Hispanic (1 in 8,000), African (1 in 15,000), and Asian (1 in 32,000) descent.
Treatment:
Nutritional problems from the lack of digestive enzymes are usually solved with enzyme supplements. Lung problems are treated, but not cured, with chest percussions or other methods of clearing mucus, drugs that help break up mucus, and antibiotics. When the lungs begin to fail, a lung transplant can extend life.
Cause:
Cystic Fibrosis occurs when a genetic mutation stops the production of a protein in cells of the lung, pancreas, and other organs. The absence of the protein impairs the cell's ability to transport chloride ions into and out of the cell. This sets up secondary conditions, including the thick mucus and bacterial infections in the lung.
Testing and Screening:
People with CF have saltier sweat than others, so, the simple and inexpensive "sweat test" that measures the amount of salt in a person's sweat, is used for diagnosis. Carriers of the CF gene can be detected with DNA testing, but the test can only pick up 80-85%.
Source: http://www.ygyh.org/hemo/whatisit.htm
Inheritance:
Cystic fibrosis is a recessive disorder. That is, a person gets cystic fibrosis only when he or she inherits two copies of the mutated gene, one from each parent.
Symptoms:
Children should be tested for cystic fibrosis if they have persistent diarrhea, smell and greasy stool, frequent pneumonia, chronic coughing, salty skin, or poor growth.
Incidence:
CF affects about 1 in 2,500 births in the U.S. and it affects males and females equally. About 5% of the U.S. population are unaffected carriers of the disorder. CF is most common in Caucasians ( 1 in 3,300) and some Native Americans ( Pueblo: 1 in 4,000; Zuni: 1 in 1,500). It is less common in Americans of Hispanic (1 in 8,000), African (1 in 15,000), and Asian (1 in 32,000) descent.
Treatment:
Nutritional problems from the lack of digestive enzymes are usually solved with enzyme supplements. Lung problems are treated, but not cured, with chest percussions or other methods of clearing mucus, drugs that help break up mucus, and antibiotics. When the lungs begin to fail, a lung transplant can extend life.
Cause:
Cystic Fibrosis occurs when a genetic mutation stops the production of a protein in cells of the lung, pancreas, and other organs. The absence of the protein impairs the cell's ability to transport chloride ions into and out of the cell. This sets up secondary conditions, including the thick mucus and bacterial infections in the lung.
Testing and Screening:
People with CF have saltier sweat than others, so, the simple and inexpensive "sweat test" that measures the amount of salt in a person's sweat, is used for diagnosis. Carriers of the CF gene can be detected with DNA testing, but the test can only pick up 80-85%.