Sickle cell disease: The hunt is on for the cure

Sickle cell disease (SCD) is life-defining. Those with this inherited blood disease never know when a crisis will disrupt their lives. They never know how long SCD is going to interfere with daily living. In many respects SCD determines an individual's quality of life, level of career success, personal finances, and perhaps even longevity-although over the past 30 years improved medical care has significantly improved the lifespan of individuals with SCD.

Progress toward a cure for SCD is moving at an excruciatingly slow pace, hampered by a low public awareness and limited research funding. While some individuals have been cured by bone marrow transplant, for most that is out-of-reach. The only new drug therapy to impact SCD in the last decade is deferasirox (Exjade, Novartis), an iron chelator. Niprisan (Hemoxin, Xechem International, Inc.), a phytopharmaceutical compound approved for treatment of SCD by Nigeria's National Agency for Food & Drug Administration and Control, has caught the interest of many SCD patients. It has not been evaluated by the U.S. Food & Drug Administration, although it has been granted orphan drug status.

SCD afflicts about 80,000 African Americans in the United States. In addition, more than 2.5 million Americans (primarily African Americans) genetically carry the sickle cell trait. SCD is not limited to African Americans; in some parts of the United States a significant number of Hispanic Americans have SCD too.

ER for SCD patients

To address the needs of SCD patients, "We did something in Atlanta that was unique," Platt said. "We built a specific emergency room (ER) just for them [SCD patients]. They do need ER care. They can have catastrophic complications that present with pain. Atlanta has the only specialized 24-hour center in the world. Some cities have day clinics: New York City and Fort Lauderdale, for example. A couple of cities are trying to start them: Chicago and Memphis haven't gotten funding yet. Otherwise, SCD patients may see a hematologist if they're lucky, or their primary care physician if they can find one who will treat them-and not all hematologists have expertise in SCD."

Without the availability of specialized medical care, SCD patients often wind up in whatever ER that is nearby, in a pain crisis. Platt explained, "Patients with SCD can have chronic pain and then horrible excruciating pain episodes on top of that chronic pain." But because pain is totally subjective, it's hard to convince someone unfamiliar with SCD that the pain is real. But he emphasized, "You've got to believe them."

Platt stated, "We did a study just tracking true addiction in our adult SCD population. During a five-year span, we were the sole provider of treatment in the city. We found the addiction rate to be about 5% in the SCD population, which is way below the incidence in the general public."