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Genetic Birth Defects

Genetic counseling allows parents to stop worrying about, prepare for, or even prevent genetic disorders their babies may be at risk for. All kinds of prospective parents decide to get genetic counseling, including older moms, people with family histories of birth defects, moms to be who've gotten test results that concern them or their physicians, and parents who want more tests or information about a genetic defect that occurs more frequently in their ethnic group. If you're an older mom, or have a family history of birth defects, you may already know whether or not you need to consider genetic counseling, but you may not know about the most common ethnically related genetic disorders.

One is sickle cell disease, a blood disorder most common among people of African descent. One out of 375 African Americans are affected, and one in 12 are carriers. Red blood cells become crescent shaped when exposed to dehydration, infection, or low oxygen supply and become stuck and plug small blood vessels, damaging tissues by blocking blood flow. Kidneys, lungs, bone, liver, and the central nervous system can all suffer damage. Blocked blood vessels and damaged organs can cause acute pain and affect long bones, bones in the back, and the chest. Therapy can help manage and control symptoms and crises, but organ failure is a real risk once adulthood is reached.

Cystic fibrosis is found most often in people of European descent: one in every 25 Caucasians is a carrier and one in every 2500 suffers from it. Cystic fibrosis affects the exocrine glands, the glands that produce mucus and sweat, which thereby impact the respiratory and digestive systems. Thick mucus formed in the bronchial tree predisposes sufferers to chronic lung infections and thick mucus produced elsewhere in the body can obstruct the pancreas, intestines, bile ducts, and air passages. Blockages in the pancreas can result in the insufficient production of pancreatic enzymes responsible for breaking down and absorbing fats, which may lead to malnutrition. People with a family history of this disease, or of unexplained infant deaths, should make sure to be tested. Doctors can work with affected babies and their parents, prescribing special diets, antibiotics for respiratory infections, mucomyst to thin the secretions that cause obstructions, breathing treatments, replacement pancreatic enzymes, and perhaps ibuprofen to slow lung deterioration or replacement of the DNAase enzyme to make sure that they have the longest and best life possible. Researchers are also pursuing ways of correcting the disorder before birth.

Four out of 100,000 Americans suffer from thalassemia. Alpha-thalassemia is most common among people of Southeast Asian or Chinese descent. It involves an imbalance in the alpha and beta protein globin chains which lead to the defective production of hemoglobin, resulting in anemia. Beta-thalassemia is most common in those of Mediterranean descent, and is also present, more rarely, among Chinese, other Asians, and Africans. A mutation in the globin chain leans to anemia, which in turn can cause growth problems, bone deformities, and enlarged livers and spleens. Blood transfusions can help, but they can also overwhelm the body with iron and damage the heart, liver, or endocrine system. Folate supplements are also taken, and bone marrow transplants are considered a potential therapy and are currently being studied. Thalassemia minor is a mild form of the disease which is symptomless.

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Featured Sites:

Cord Blood Registry
March of Dimes
Susan G. Komen

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