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Uncovering thalassemia

Lexi Deboe enjoys painting while receiving her monthly blood transfusion.

When Tony and Bridget Deboe decided to start their family, they knew there was a one in four chance that their child would be born with beta thalassemia, an inherited disorder that affects the production of normal hemoglobin. "Both my wife and I carry the trait," says Tony, "but we took our chances."

On November 20, 2000, the Deboes welcomed twin girls—Alexia (Lexi) and Kailyn—into the world. And just nine months later, both were diagnosed with beta thalassemia, also known as Cooley's anemia.

"Patients with this diagnosis don't make enough beta globin to effectively carry oxygen," says Melody Cunningham, MD, director of Children's Hospital Boston's Thalassemia Program.

It wasn't until they were nearly 4 years old that Lexi and Kailyn began to feel the effects of their thalassemia. Bridget noticed that the twins' foreheads started to appear slightly enlarged, and they were napping a lot during the day.

So the Deboes brought the girls to Children's. "The family was trying to determine the best course of action for their kids," says Dr. Cunningham. "The twins were making just enough beta globin to grow and survive to that point, but they were starting to feel the increased stress it was placing on their bodies: fatigue and changes in their bones."

Children's Hospital Boston's Hematology team is working with the New England Pediatric Sickle Cell Consortium, comprised of seven regional hospitals, to educate primary care physicians about Newborn Screening blood diagnoses by conducting workshops. For more information, email Cassie Ryan, RN, MPH, at kathleen.ryan@ childrens.harvard.edu.

Dr. Cunningham worked with the family to determine whether the girls should begin blood transfusions, which are typically initiated around 6 to 9 months of age in patients with beta thalassemia, or consider splenectomy, a procedure that may postpone or avoid the need for transfusions. "I explained to the parents that the fatigue, changes in the bones and some changes that we found in the girls' hearts suggested that they really needed transfusions," she says.

Lexi and Kailyn were lucky in that their parents were aware of their risk for thalassemia, but many other families are not. When hemoglobin traits and diseases, like thalassemia, remain untreated, they can cause serious problems, so early diagnosis is important. In the absence of a family history, Newborn Screening is often the primary indicator.

"Most states, including Massachusetts, perform mandatory Newborn Screening for hemoglobinopathies when babies are born," says Matthew Heeney, MD, FRCPC, clinical director of Children's Sickle Cell Program and director of the Hematology Clinic. "An abnormal result could mean an abnormal hemoglobin trait or disease is present, so it's very important for primary care physicians to follow up on these results."

"Newborn Screening results for hemoglobinopathies can be confusing. If a pediatrician is unsure about an abnormal result, it's always okay to give us a call, or better yet, drop us a fax with the newborn screen result, the patient's family history and a CBC if available," adds Dr. Heeney. "We're happy to help."

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