Thalassemia is an inherited condition that causes a problem in the production of hemoglobin, small number of them may have developed it themselves. This leads to anemia, which is a low red blood cell count.
Hemoglobin carries oxygen from the lungs to the tissues. It also carries away the waste product of carbon dioxide. In thalassemia, something goes wrong with the production of hemoglobin. When defective hemoglobin is incorporated into red blood cells, the red blood cells do not function properly. They are more likely to die off. This leads to anemia. At that time, the function of the liver was unable to produce enough red blood cells.
Thalassemia is an inherited disorder that the modern science believes. In a person with thalassemia, one or both parents are positive for the disease. When one parent or grant-parents is positive, the child will have thalassemia minor (mild). When both parents are positive, the child will have thalassemia.
The signs and symptoms of the disease:
The symptoms of thalassemia depend on the genetic defect and its severity. The more severe the genetic defect, the less hemoglobin that is produced and the more severe the anemia that results. Thalassemia minor may not cause any symptoms. If it does, the most common symptom is long-term, mild anemia.
Someone with thalassemia major usually has severe hemolytic disease. This means that the red blood cells are constantly being destroyed. This occurs faster than the body can replace them. Thalassemia major is usually diagnosed by 1 year of age. The symptoms of thalassemia major may include:
· jaundice, or yellow colored skin
· failure to thrive
· enlarged spleen and liver
· bony abnormalities, especially of the facial bones
The causes and risks of the disease:
Thalassemia is a common genetic disease. It is more common in people of African, Mediterranean:
There is no way to prevent thalassemia once the child is born. Genetic counseling may be helpful to couples with a family history of the disease. There is a 25% chance with each pregnancy that a child will be born with thalassemia major if both parents carry the gene for thalassemia according to the western data.
Diagnosis of Thalassemia :
Thalassemia is diagnosed through blood tests. A sample of blood is taken to look for a low red blood cell count, low hemoglobin levels, small red blood cells, or an abnormal red blood cell structure. Sometimes a more complex genetic analysis is needed.
Long-term effects of the disease :
Thalassemia minor usually does not cause long-term problems. Thalassemia major, however, can result in stunted growth, problems in bone development, darkened skin, general growth problems, and death.
Risks to others:
Thalassemia is an inherited condition, so a person can passed it on to his or her children.
Regular blood transfusions are needed. The person will also require folic acid and other nutritional supplements in the western medication.
An individual who has frequent red blood cell transfusions can develop iron overload. It may be dangerous.
Others treatment for thalassemia are still being tested in clinical trials. These include: · changing the abnormal hemoglobin genes using medications similar to those used in cancer chemotherapy· bone marrow transplant and infusions of stem cells, which are starter cells · specific gene therapy targeted at the abnormal chromosomes, which all may be dangerous too, and it is only under research stage.
Frequent blood transfusions can lead to an iron overload. Excess iron can end up in various body tissues and cause skin discoloration, liver disease, and diabetes.
There are risks with any blood transfusion. These include an allergic reaction, infection, and sometimes hepatitis or HIV, the virus that causes AIDS.
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