Comprehensive Sickle
Cell Centers
The BCSCC is allied with the Center of Excellence in Sickle Cell Disease. Its aims are to carry out novel therapeutic
trials in sickle cell anemia and HbSC disease; conduct innovative studies of erythrocyte biology focusing on cation
transport, adherence molecules and NO in sickle cell disease and the sickle mouse; assemble a clinical core providing
a foundation for collaborative therapeutic trials and a model for patient care; furnish hemoglobinopathy testing, education
for patients and medical professionals and non-directive counseling about sickle cell disease.
BCSCC Educational Services
Educational activities include efforts for medical professionals and patients and their families. A graduate school course
directed by Dr. Steinberg uses sickle cell disease as a paradigm of a molecular disease and traces the molecular features
of disease through to clinical trials. Counselors present lectures at our affiliated medical centers and universities in
Boston, targeting health professionals as well as medical and nursing students. The counseling staff is part of the Hemoglobinopathy
Task Force of the New England Regional Genetics Group that meets quarterly. This group holds a Sickle Cell Family
Retreat and Seminar every summer bringing together patients and families from
across New England. It also sponsors an annual 10-day trip for a group
of 8- to 14-year-old sickle cell disease patients to Paul Newman's
"Hole-In-The-Wall-Gang" summer camp. Weekly Teen and Adult Support
Groups reach out to the community, local merchants, as well as
corporations, to sponsor annual events for hundreds of sickle cell
disease patients and families. Some annual events include summer
barbeque; a Boston Celtics sponsored Christmas party with NBA players,
clowns, games, singers, food and gifts; a banquet and a Walk-a-Thon..
BCSCC Research
BCSCC research initiatives include treatment of sickle cell disease with agents that promote HbF gene expression and prevent
or repair erythrocyte dehydration; the red cell membrane; nitric oxide biology and sickle lung disease.
The BCSCC supports several Phase II clinical trials. Among these are studies to examine the role of arginine in modulating cell density in sickle cell anemia; a double-blind, placebo-controlled study of the use of hydroxyurea and magnesium, alone and in combination, in patients with HbSC
disease, designed to examine the effect of these agents on cell density
and clinical symptoms; an epidemiological study of priapism in sickle cell
patients;
and a study of neurocognitive function in adults with sickle cell disease.
We also recruit patients to participate in a large clinical and laboratory database that will be used for clinical trials and basic research studies.
This database will have associated data on hemoglobin genotypes and phenotypes and a biological sample repository.
Dr. Susan Perrine studies short chain fatty acids as agents that may reverse the
γ-globin to β-globin chain switch and thereby impair
the polymerization of sickle hemoglobin. She also studies how sodium butyrate and hydroxyurea
can increase HbF in sickle cell anemia.
Dr. Harrison Farber defines the role of NO in vascular responses in a sickle cell transgenic mouse by correlating
functional assays, lung histology and animal mortality with changes in NO metabolism at baseline and during induced
crisis. He studies the effects of pharmacological manipulation of chest syndromes in a sickle cell transgenic mouse.
By crossing sickle mice with NOS III deficient, glutathione peroxidase deficient, or glucose-6-phosphatase dehydrogenase
deficient mice, he studies the interactions of an oxidant environment with NO biology.
Dr. David E. Golan and Dr. Gilda A. Barabino study the adhesive properties of sickle erythrocytes at the molecular and cellular
level. Using a unique set of biophysical and imaging techniques to study, at the level of single adhesion molecules, the
molecular interactions involved in cell-cell and cell-matrix adhesion. These methods will be applied to the study of (1)
membrane protein and lipid dynamics in sickle erythrocytes, (2) adhesive interactions between sickle erythrocytes and
activated vascular endothelial cells, and (3) adhesive interactions between sickle erythrocytes and activated T lymphocytes.
Dr. Carlo Brugnara and Dr. Seth Alper focus on the functional and molecular characterization of transporters, which play a
major role in sickle cell dehydration. They identified the crucial role played by the Gardos channel in sickle cell
dehydration and helped develop a novel Gardos channel blocker.
Dr. Hong Luo, the present Sickle Cell Scholar, works on HbF modulation with Dr. David Chui. She characterizes the GATA-1 binding sites in the Gγ-globin gene promoter, identifies protein partners in the GATA-1 complexes, investigates function of the Gγ-gene negative regulatory region in transient erythroid cell expression system and developmental regulation of Gγ-globin gene in transgenic mice with the YAC containing the human β-globin gene cluster.
Clinical Cores
We have a diverse group of clinical cores that have been successful in recruiting patients for clinical trials. These include the Adult and Pediatric Hematology units at Boston Medical Center,
Boston Children’s Hospital, Brigham and Women’s Hospital in Boston and the University of Mississippi Medical Center in Jackson, MS. The total number of patients exceeds 1600. In all core sites, an experienced nurse coordinator and
a group of dedicated physicians support the clinical research studies.
The combined Boston component of the Comprehensive Sickle Cell Center
clinical core has 661 patients with
sickle cell disease: 310 children aged 15-years or less and 351 above age 15-years. Patients are enrolled and receive
comprehensive care at three affiliated medical centers: 197 pediatric patients at
Boston Children’s Hospital, 92 adult patients
at Brigham and Women’s Hospital, and 372 pediatric and adult patients at Boston Medical Center.
Boston Medical Center adult patients are seen on the 3rd floor of the
Moakley Building on Fridays by Dr. Lillian McMahon, Dr. Henry Adewoye, Shirley
Johnson, RN and Sharon Agnew-Saunders, the Counselor and Outreach Worker. Pediatric sickle cell patients are seen on the 5th
floor of the Ambulatory Care Center on Monday mornings and Wednesday afternoons and evenings by Dr. Philippa Sprinz and Dr. Karla
Fuentes.
The Hematology/Oncology Division of the Department of Medicine at Boston
Children's Hospital provides care for nearly 200 patients with sickle
cell disease. Clinical activities take place on Mondays and Wednesdays
on Fegan 6. These Medicine Ambulatory Clinics are attended by Dr.
Matthew Heeney and Brook Hoffman, RN, a nurse specialist with extensive
experience in sickle cell disease.
The Brigham and Women’s Hospital Adult Sickle Cell Clinic, located at Dana-Farber Cancer Institute, is attended by Dr.
Maureen Okam.
The University of Mississippi Medical Center Hematology Clinic, an
affiliate of the BCSCC, is located in a new ambulatory facility which
houses primary care and specialty clinics, laboratory and radiology
services, and special research clinics. Dr. Carolyn Bigelow and Arelene
Anderson, RN attend the Adult Hematology clinic on Tuesdays. Dr. Rathi
Iyer and Carol Ward, RN attend the Pediatric Hematology clinics twice a
week for scheduled visits.
updated 7.31.07
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