Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria
Aplastic Anemia is a bone disorder in which the bone marrow ceases to produce blood. The hematopoietic (blood-forming) cells of the bone marrow are the soft, spongy inner part of such bones as the skull, pelvis, and backbones. The hematopoietic cells produce three types of blood cells: red, white, and platelets. Red cells carry oxygen to the muscles and provide the body with energy. Platelets are the clotting cells that prevent bleeding. White blood cells are the cells of the immune system. In aplastic anemia the bone marrow literally disappears and an empty space is seen which does not produce blood.
Paroxsymal Nocturnal Hemoglobinuria is an uncommon acquired disorder of GPI-linked proteins. Patients missing these proteins may develop serve marrow failure mimicking aplastic anemia. They may also develop unusual clotting episodes.
At The Cancer Center, our chief of the Division of Leukemia, Stuart L. Goldberg, M.D., cares for many patients with marrow failure syndromes. He also serves as the medical advisor to the Northern NJ Chapter of the Leukemia and Lymphoma Society. He leads an active leukemia research team that is conducting about 30 clinical trials for new treatments for leukemia including trials in marrow failure syndromes such as Aplastic Anemia and PNH.
A hematologist/oncologist, Dr. Goldberg also specializes in the use of stem cell transplantation to treat patients with marrow failure syndromes. He and his colleagues at The Cancer Center's Adult Blood and Marrow Stem Cell Transplantation Program pioneered the use of reduced-intensity "mini" transplants for older patients and those who are too frail to undergo the rigors of a standard stem cell transplant. Our stem cell transplantation program is one of the nation's 10 largest; each year more than 200 stem cell transplants are performed here.
A crucial component to the accurate diagnosis of marrow failure syndromes is The Cancer Center's Special Diagnostic Immunology Laboratory, one of only several sites in New Jersey where comprehensive tests are available to detect cancer at the molecular level and to stage and classify it.
A diagnosis of Aplastic Anemia and PNH is made after several tests have been completed. Samples of cells are taken from a patient's blood and bone marrow. A crucial component to the accurate diagnosis of leukemia is The Cancer Center's Special Diagnostic Immunology Laboratory, one of only several sites in New Jersey where comprehensive tests are available to detect cancer at the molecular level and to stage and classify it.
Most patients will never be able to identify the cause of their marrow failure. However, toxins and medications are well recognized risk factors. Recent exposure to viruses such as hepatitis may also contribute to these diseases.
Symptoms of Aplastic Anemia and PNH typically appear and worsen quickly. Common symptoms:
- fever, chills, and other flu-like symptoms
- frequent infections
- weakness and fatigue (due to anemia)
- loss of appetite and/or weight loss
- unusual blood clots
- easy bruising or bleeding
- tiny red spots (called petechiae) under the skin
- swollen or bleeding gums
The main treatments for Aplastic Anemia are immunosuppressants and stem cell transplantation. Antibody therapy may also be considered in PNH. Your hematologist/oncologist will decide which treatment or combination of treatments is best for you. The decision to receive aggressive treatments can often be quite difficult but may be based on the patient's general health, age, and overall desires. Shortly after diagnosis a comprehensive review is performed to determine the aggressiveness of the disease and to provide prognostic information that may be helpful in chosing a treatment course.
Stem Cell Transplantation
Stem cell transplantation may be used to restore blood-producing stem cells. Stem cell transplantation is a highly advanced type of treatment that is available at only several hospitals in New Jersey. Our Adult Blood and Marrow Stem Cell Transplantation Program is one of the nation's 10 largest. Each year more than 200 persons undergo stem cell transplantation here at The Cancer Center. The program is the only one in New Jersey where stem cell transplants using cells from unrelated donors are performed. Our chief of the Division of Leukemia, Stuart L. Goldberg, M.D., and other experts in stem cell transplantation at The Cancer Center are responsible for some of the major advances in the techniques used in stem cell transplantation, including the use of reduced-intensity "mini" transplants to treat older patients and those who are too frail to undergo the rigors of a standard transplant. Dr Scott Rowley who heads the Stem Cell Transplantation Program is currently participating in national trials designed to improve the safety of this procedure for patients with Aplastic Anemia.
Transplantation is an important component of Aplastic Anemia and PNH. Patients at our center are introduced to members of the transplantation team shortly after diagnosis and early identification of appropriate stem cell donors is begun. For patients with advanced disease transplantation may be recommended within weeks of diagnosis, whereas for patients with less advanced disease other therapies including observation or periodic transfusions may be recommended. A careful multi-divisional approach to leukemia is critical to success and is facilitated at our center by weekly joint meetings between members of the Leukemia and Transplantation Divisions.
For older individuals or those without a suitable donor, immunosuppressive therapy for aplastic anemia may be a reasonable treatment option. Studies at the National Institutes of Health have demonstrated long term survival rates above 50percent with a brief course of anti-thymocyte globulin (commonly known as horse serum) combined with cyclosporine.
A cause of severe anemia (low red counts) among patients with Paroxsymal Nocturnal Hemoglobinuria (PNH) is altered defenses of the red blood cells against the bodies own immune system. In 2007 a new antibody treatment (eculizumab) has been introduced to reduce complement mediated red cell destruction in these patients.
Whole blood transfusions or transfusions of platelets, white blood cells, and red blood cells may be given as supportive treatment.