A 7-year-old girl from Manhattan’s Chinatown. A 14-year-old girl of Italian descent who resides in a Westchester suburb. A 15-year-old boy from South Asia who now lives in Queens. These three children all have something in common: They all have thalassemia, a genetic blood disorder also called Cooley’s anemia. “Children with thalassemia have blood that just doesn’t work,” says Jayne Restivo, national executive director of the Cooley’s Anemia Foundation (CAF). “Their bodies can’t form healthy red blood cells, so the cells can’t carry enough oxygen from the lungs to other parts of their bodies.” This results in a severe anemia that requires lifelong blood transfusions every two to four weeks, without which the patient will die. Unfortunately, at the same time that these transfusions are saving the patient’s life, they are overloading his/her body with iron. Over time, this accumulation can result in serious complications, including heart failure and liver fibrosis. If that iron is not removed, it can prove fatal. “Excess iron is removed by a process called ‘chelation’,” explains Peter Chieco, CAF’s vice president for medical information and a father of a child with thalassemia. “This involves inserting a needle under the skin of the child’s stomach or leg, attaching it to a pump, and infusing a drug into the body over an 8- to 12-hour period. And this difficult treatment must be repeated five to seven nights every week.” With such a demanding regimen, compliance becomes a big issue. “Many patients simply can’t go through with this treatment night after night after night for all of their lives,” Chieco says. “It’s also difficult for the parents, who may have to physically hold down a crying child to administer the drug, and who later may have to constantly monitor their child to make sure he’s compliant. “And even the most compliant patients suffer the disappointment of discovering that the needle has come loose and fallen out as they slept, so that an entire night’s treatment has been wasted.” A genetic disease, thalassemia can only occur when both parents carry the trait for it. There is a 25 percent chance with each pregnancy that the child of two carriers will have a severe form of the disease. Over 2,000,000 Americans carry the trait, but most are unaware of the fact. Although thalassemia is more prominent in certain populations (e.g., people of Mediterranean, Middle Eastern, Northern African, South/Southeast Asian or Caribbean descent), CAF recommends that any couple preparing to have children be tested for the trait. Trait testing involves looking at the Mean Corpuscular Volume (MCV) of a Complete Blood Count (CBC). If an adult has an MCV of less than 75 and is not iron deficient, s/he may be a carrier. In that case, additional tests can reliably determine whether s/he carries the trait. Trait carrying couples who wish to have children may want to consider pre-implantation genetic diagnosis (PGD), as well as prenatal testing such as amniocentesis, chorionic villus sampling (CVS) or periumbilical blood sampling (PUBS), to help determine the probability that a specific pregnancy will result in a child with thalassemia. As with any other medical procedure, there are both benefits and risks to these options, which can be explained by a qualified genetic counselor. (To find such a counselor in your area, contact the National Society of Genetic Counselors at www.nsgc.org.) For more information about thalassemia, contact the Cooley’s Anemia Foundation at 800-522-7222 or at www.cooleysanemia.org.
CRAIG BUTLER is national communications director of the Cooley’s Anemia Foundation, based in Flushing.
Could YOU be pre-anemic? Despite myriad modern medical advances and much attention given to preventing it, pre-anemia has become one of the world’s most widespread and largely undiagnosed health problems. “Sadly, most women don’t know they have pre-anemia because most doctors don’t test for it,” says women’s and children’s health expert Dr. Cathy Carlson-Rink, a naturopathic physician, registered midwife, and instructor at the Boucher Institute of Naturopathic Medicine in British Columbia. Anemia is basically defined as a reduction in the number of red blood cells. The primary function of iron, which is an important mineral during growth in the body, is the formation of hemoglobin, the vital oxygen-carrying component of the red blood cell. Iron deficiency is most common in infancy, childhood, adolescence, and pregnancy. During their reproductive years, women have an increased problem with iron deficiency because of larger requirements and monthly menstruation losses. During an average menstrual cycle, 30-40 mg. of iron is lost — one of the reasons why women in this age group need a consistently higher iron intake than men. The difficulty the body has absorbing iron and low-iron diets are the primary reasons that iron deficiency is prevalent. Dr. Carson-Rink says proper diagnosis of pre-anemia in women of childbearing age is essential, as studies have linked low iron stores with fertility problems, pre-term labor, and low birth weight babies. Women in their childbearing years need at least 18 mg. of iron daily, but more than 25 percent of them probably obtain less than this amount, studies have shown. Not always easy to diagnose, iron deficiency, even when not enough to cause anemia, is an important cause of decreased attention span, alertness and learning. Other signs and symptoms include pale skin color, fatigue, irritability, headache, decreased appetite and shortness of breath. Decreasing iron stores and a relative decrease in serum iron levels and protein-bound iron may cause symptoms before low tissue iron levels or anemia are measurable. “Women in a state of pre-anemia typically find their concentration evaporates before they’re able to finish tasks, and their ability to get things done has nose-dived,” Dr. Carson-Rink says. Women who experience poor concentration and poor tolerance for physical activity are often suspected to be anemic. But when a blood test shows normal red blood cell and hemoglobin levels, the physician may rule out anemia, she explains. “Because iron deficiency symptoms usually appear before anemia develops, a more sensitive test to check iron stores is usually a good idea whenever anemia is suspected but not found by the physician,” Dr. Carlson-Rink notes. Dietary change and iron supplements are the best way to correct pre-anemia, she says. Beef liver, almonds, raisins, kelp and other leafy greens are some foods that help get more iron into the body. When requirements are increased, such as with pregnancy, lactation or heavy menstrual flow, iron supplements are strongly recommended. Fortunately, an increase in the body’s needs is usually accompanied by a craving or taste for iron-rich foods as part of natural survival and health instincts. “Women with low iron levels don’t have to feel like they’re losing their minds,” Dr. Carlson-Rink notes. “With proper iron supplementation, they should experience an improvement in general well-being and of pre-anemic symptoms within four to eight weeks. Treated in this way, pre-anemia can be completely resolved in three to 12 months.”
