Dr. White poses with Carmen Camacho and Nancy Lee, board members of the HPS Network.Our first scientific speaker on Sunday was Dr. James White from the University of Minnesota. If you’ve been diagnosed with Hermansky-Pudlak Syndrome, chances are at some stage your platelets were under Dr. White’s electron microscope.
Dr. White developed the gold standard test for diagnosing HPS by looking for an absence of delta dense bodies under the electron microscope, a very special and highly powerful microscope. An electron microscope uses electrons to illuminate a specimen instead of light. This allows researchers to achieve much greater magnification of the object being studied.
Dr. White began studying blood platelets in 1958. He soon met Dr. Witkop, another researcher at the University of Minnesota studying albinism. Dr. Witkop asked Dr. White if he’d mind looking at some hair bulbs taken from patients with albinism under the electron microscope. Dr. White agreed, but asked if in return, Dr. Witkop could find any people with albinism that appeared to have a bleeding disorder. He’d heard reports of such cases and was anxious to study the blood of someone with albinism that had bleeding tendencies.
Within a few weeks Dr. Witkop appeared at Dr. White’s lab accompanied by a small boy with albinism from Ireland who happened to have a black eye. Although a black eye in a small boy doesn’t in and of its self indicate a bleeding tendency, a sample was taken anyway. Sure enough, the boy was missing delta dense bodies from his platelets.
Dr. White is responsible for naming Hermansky-Pudlak Syndrome, although it came about by accident. During a scientific meeting he was presenting some of his findings and comparing them to work that Dr. Hermansky and Dr. Pudlak were doing in Czechoslovakia. Every time he’d get to a new item in his talk, he’d have to give the entire description of what characterized patients with HPS. It was a mouthful. So, part way through the talk, Dr. White started referring to the list of symptoms as “the Hermansky-Pudlak Syndrome.”
Dr. Hermansky and Dr. Pudlak had described two patients with albinism, a bleeding tendency and pulmonary fibrosis in a paper published in 1959.
Yet even this was not actually the first report of a possible association between a bleeding disorder and albinism. A paper titled “Red Haired Albinos” published in 1924 in England observed that some people with albinism that had reddish hair tended to have a bleeding tendency. Today, of course, we know that people with HPS have all types of shades of hair, from very light to very dark.
Dr. White had the pleasure of knowing Dr. Hermansky and Dr. Pudlak from various scientific meetings. Dr. Hermansky, remembers Dr. White, was the devoted scientist. Dr. Pudlak, however, was a member of the Czech communist party, and as a trusted party member, could more freely travel to meetings abroad.
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