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Inherited Human Diseases: Victories, Challenges, Disappointments*

The American Society of Human Genetics
Publication Date
  • 2002 William Allan Award Address
  • Medicine


Patient Information Series: What is Hermansky-Pudlak Syndrome? Patient Information Series A M E R I C A N T H O R A C I C S O C I E T Y What is albinism? Albinism is an inherited disease in which reduced pigmentation (coloring) is present in the body. As a result, people with albinism are often fair-skinned with light hair. However, skin, hair, and eye color may vary, as some people with albinism may have dark brown hair and green or hazel/brown eyes. Low vision and various degrees of nystagmus (uncontrolled eye movement from side to side) is present in all cases. All people who have HPS have albinism, but not all people with albinism have HPS. Why do people with HPS bleed easily? Platelets are cells that circulate in the blood stream and help the blood to clot. HPS patients have normal numbers of platelets, but they are not made correctly and do not function well, so the blood does not to clot properly. As such, persons with HPS may bruise easily or have frequent or heavy nose bleeds. Bleeding problems are usually mild, but in some cases they can be quite serious, especially in certain situations such as surgery. Some women might require special medical attention during their menstrual cycle or at childbirth because they can lose too much blood. What causes pulmonary fibrosis in HPS? The exact cause of pulmonary fibrosis in HPS is still uncertain. It occurs in HPS1 and HPS4. There is inflammation present, and overtime, the lungs become scarred or fibrosed. The fibrosis in the lungs limits the ability for oxygen to enter the blood. This results in a lower than normal amount of oxygen to reach the cells of the body. Organ damage may occur if oxygen levels are severely low or continue to be low and uncorrected over a long time. Besides a low blood oxygen level, symptoms of pulmonary fibrosis can include shortness of breath and fatigue. Pulmonary fibrosis develops during early adulthood and gradually worsens as a person ages. What other problems are common

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