HIV, STDs, breast health: these are all things a woman should
probably be tested for in the course of her life, but for women
– and their partners – who are considering becoming pregnant, a
test for thalassemia trait may not be a bad idea either.
HIV, STDs, breast health: these are all things a woman should probably be tested for in the course of her life, but for women – and their partners – who are considering becoming pregnant, a test for thalassemia trait may not be a bad idea either.
Thalassemia – a condition in which sufferers make little or no hemoglobin oxygen-transport molecules usually found by the hundreds in each red blood cell – requires patients to have regular blood transfusions in order to pick up vital hemoglobin. Otherwise, they can become very anemic.
“As a result (of the transfusions), one is prone to iron overload, and iron in excess is toxic,” said Laurice Levine, a spokeswoman for Children’s Hospital Oakland and a thalassemia sufferer herself. “When it collects in your body, it’s like rust on a bike. Rust corrodes things. It breaks them down, and that’s what it does to you (when you get transfusions).”
Thalassemia is usually associated with people who come from Mediterranean countries such as Greece and Italy. In reality, the condition is common to anyone from a society where malaria is common, according to Levine.
People with thalassemia trait – a genetic marker that doesn’t prove they have the disease, but only that they might pass it on to a child – is actually a boon in these areas, since the genetic variance can help a person ward off malaria, said Levine.
“Today we’re finding it more and more coming from Asia,” said Levine. “Eighty percent of the cases in California are among people of Asian descent – South Asia and Southeast Asia, too. It also appears, not just in people from the Mediterranean, but the Middle East and India.”
Routine testing at birth in the United States can tell parents if their child has thalassemia, but many parents aren’t aware of the risk – a one-in-four chance if both parents have the trait – before they decide to become pregnant, said Levine. And even if there is a family history of the disease, potential parents may not know.
“Disclosure is an issue everybody has, and depending on your culture, lots of people don’t consider it appropriate to talk about,” said Levine. “A lot of adults don’t share that they have thalassemia with their kids, and when you get to adulthood, it gets even more complicated. How do you tell your significant other that you have this disease that can be fatal?”
For herself, Levine has found honesty to be the best policy. After all, she can’t hide from her husband or kids the fact that she gets up at 5am each morning to exercise and spends hours at night with a needle in her body, but she said she’d rather not live a lie. Sure, she said, it scared away boyfriends, but she still found the right guy, one who “doesn’t treat me with kid gloves, like I’m walking on glass.”
Prior to transfusions, the average life span for a thalassemia patient was five years, but the additional blood supplies brought life expectancy up into the teens. Then, in the 1970s, an iron-removing treatment called Desferal came onto the market. It’s still the industry standard.
“Desferal has to be administered through a pump every night for 10 hours, so you put a needle in your belly or your leg and the medicine is infused,” said Levine. “It’s a high-maintenance disease, but it’s significantly extended the life spans of patients.”
Today, patients with thalassemia are living longer than ever before, but medical centers, by and large, have not caught up with them. Most adults are seen through pediatric facilities like Children’s Hospital Oakland, said Levine. And despite the fact that many older patients contracted diseases like HIV and hemophilia from transfusions prior to regular blood testing, some patients are beginning to live into their 50s.
“Three-quarters of the patients at Children’s are older than 16 or 17, and about half of the patients in the United States today are adults, but it requires a lot of work,” said Levine. “The ages between 13 and 21 seem to be the most difficult. Patients usually get diagnosed by the time they’re 2. Transfusions start right away and (treatment) starts right after that, so by the time you’re 4, you’re doing all of that. If you’re young, your parents are compliant for you. It’s kind of those rebellious years where you’re immortal and you just want to fit in that you’re in more trouble.”
Most patients get serious about taking care of themselves when they’re jolted by something like a personal health scare or the death of a young friend, said Levine. She’s hoping to change that. As a 33-year-old survivor, she hopes younger patients will follow her example and live to enjoy their lives for decades to come.
“I think because it’s something a lot of people have never heard of, it sounds scary, but it’s not like it was 20 years ago,” said Levine. “There’s a lot more blood safety these days, so it’s not like it was 20 years ago, but it can be if you’re not informed. Something like cystic fibrosis, there’s no trait testing for yet, but thalassemia there’s testing for. You can know and, if you’re positive for trait, you can make an educated decision about your future.”
For more information on thalassemia, visit Children’s Hospital Oakland’s Web site, www.thalassemia.com or Cooley’s Anemia Foundation at www.thalassemia.org.
