Hematology: Help for Hemophiliacs

Hemophilia is not just “the disease of kings,” although it was so called after Queen Victoria transmitted the deadly trait to Russia’s Romanovs and a dozen other royal-blooded descendants. As many as 40,000 Americans, commoners all, are estimated to suffer from the severe, “classical” form of the ailment. Doctors have learned to control most victims’ bleeding episodes with transfusions and intravenous injections. But the techniques involved have been complex, cumbersome and costly. Only recently has medical research advanced sufficiently to simplify the process and cope with the problems of supply.

What the hemophiliac’s blood lacks, because of a genetic defect transmitted from mother to son, is a clotting protein known as antihemophilic factor (AHF) or globulin (AHG), also called Factor VIII. Because of this deficiency, the hemophilia victim lives in constant danger of severe bleeding from the most minor wound, such as a finger cut or a tooth extraction. Even with no external injury, he may bleed internally after a bump or a stumble. This is especially likely to happen inside his joints, causing arthritis with progressive deformity and disability.

Fast Freeze. Since all normal blood contains AHF when fresh, transfusion is an obvious answer. But the volume needed may amount to several pints a day, more than the patient’s system can stand if the treatment has to be repeated often—as it usually does. And all transfusions carry the risk of hepatitis infection or severe allergic reactions. It was not until 1965 that a Stanford University physiologist, Judith Graham Pool, developed a technique of freezing, thawing and centrifuging fresh plasma to concentrate the AHF. (The rest of the plasma could still be broken down into a dozen other life-saving fractions.)

In its frozen state, this cryoprecipitate kept indefinitely and could be quickly processed for intravenous infusion in a solution averaging ten to 20 times the potency of plasma. But infusion took up to an hour, and the hemophiliac usually had to go into a hospital to get it. The material could be extracted from only the freshest of plasma. Even the short delay between collection by a mobile blood unit and delivery at a blood center was long enough to destroy or damage the AHF.

Grateful Beneficiary. Now solutions are being found for even these problems. The Health Fund of Greater Cleveland has just begun sending around, along with its normal mobile blood-collecting unit, the nation’s first auxiliary van equipped with a freeze-centrifuge apparatus. And recently Dr. Kenneth M. Brinkhous, a blood scientist at the University of North Carolina, collaborated with Dr. Edward Shanbrom of the Hyland (Los Angeles) division of Baxter Laboratories to perfect a new AHF six or seven times as strong as Dr. Pool’s cryoprecipitate. The new preparation, 30 to 50 times as active as plasma, has just gone on the market.

The greater concentration makes it possible to give the normally required amount of AHF by hypodermic injection into a vein—and in only five minutes. Moreover, this can be done in the doctor’s office or an out-patient clinic. One of the first and most grateful beneficiaries of the new treatment system is David M. Raatz, a California attorney who lives in Monrovia and practices in San Marino. At 26, Raatz has had gallons of plasma and concentrates to stanch the bleeding that recurs most commonly in his ankles, knees and elbows. He never used to know when he would be able to appear in court when a case was called; at best, he might have to hobble in on crutches.

“Now,” says Raatz, “I can do much more work and stay on the trial calendar. Clients have more confidence in me, now that I’m available regularly. No one who is not a hemophiliac can imagine what a relief it is to be able to work on schedule.” His wife Joan recently bore the Raatzes’ second baby. Like the first, it was a boy. And by a Mendelian pattern of inheritance, a hemophiliac cannot transmit the disease to a son.

Do It Yourself Cost is still a problem. For a patient like Raatz, there is no predicting how often he will need AHF, or just how much. His expenses have run as high as $150 in a week, but for him and most other patients they average about that per month over the long run. Prices are expected to come down when the supply increases. The demand is there: U.S. hemophiliacs need the AHF from 1,000,000 pints of blood each year.

Dr. Shanbrom foresees a day when patients will enjoy still greater convenience. Some batches of AHF concentrate have been made 1,000 times more potent than plasma. Eventually, Brinkhous is confident, this will become the standard AHF, so safe and stable that hemophilia victims will be able to carry it around and inject it themselves, into muscle, just as diabetics now do with insulin.