Development of DNA analysis for human diseases: sickle cell anemia and thalassemia as a paradigm
Article Abstract:
Defects in hemoglobin, the protein in red blood cells that carries oxygen, are the most common genetic disorders. They include sickle cell anemia, beta-thalassemia and alpha-thalassemia. The defective genes have been identified and sequenced; consequently, amniocentesis can detect these disorders in affected fetuses. The use of restriction enzymes to cut DNA into smaller pieces found that sickle cell anemia was caused by a single nucleotide mutation on the beta-globin gene. This technique can be used to trace the geographic origins of these diseases, as well as other genetic disorders such as phenylketonuria. The polymerase chain reaction, which allows researchers to create multiple copies of a DNA sequence, has assisted DNA analysis. One of the biggest successes of prenatal DNA analysis has been to reduce the incidence of beta-thalassemia in Mediterranean countries to less than 10% of its incidence before the introduction of prenatal DNA analysis.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1992
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Molecular diagnosis and carrier screening for beta thalassemia
Article Abstract:
Genetic screening of all adults of childbearing age in many Mediterranean countries has dramatically reduced the incidence of beta thalassemia. This disease is a disorder of hemoglobin production, which causes severe anemia in people who inherited the gene mutation from both parents. It is common in people of Mediterranean, Middle Eastern and Asian descent. In the 1970's, widespread screening was introduced in many of these countries. This resulted in a drop of 90% or more in the incidence of beta thalassemia in countries such as Sardinia, Greece, Italy and Turkey.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1997
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Prospects for Research in Hematologic Disorders - Sickle Cell Disease and Thalassemia
Article Abstract:
Gene therapy may be the most effective treatment for genetic hemoglobin disorders such as sickle cell disease and thalassemia. Until it is widely available, most treatments focus on increasing the number of normal red blood cells using red blood cell transfusions, drugs that increase fetal hemoglobin levels, and stem cell transplants.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2001
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