Sickle cell disease results from an amino acid substitution of valine for glutamic acid at position 6 of the beta-globin chain. This alteration causes deoxygenated sickle hemoglobin to form polymers that ultimately destroy red cells, thereby producing anemia. If sickle cell disease only produced anemia, the problem would be relatively minor, as people can tolerate the typical hemoglobin levels of 7 or 8 g/dl reasonably well. The key difficulty with sickle cell disease is the damage to tissues and organs produced when deformed sickle erythrocytes occlude the microcirculation. The variegate manifestations of sickle cell disease are due ultimately to this problem.
The routine care of people with sickle cell disease does not necessarily require a hematologist. With few exceptions, the common complications are familiar to the experienced internist. The key to care of patients with sickle cell disease is knowing which problems are likely to result from the condition, and preventing these complications where possible. This means creating a program of regular follow-up in the office, rather than intervening when crises develop. The momentum in medical care has swung away from medical sub-specialists and toward primary care physicians. Physicians trained in general medicine will play an increasingly important role in the management of patients with sickle cell disease.
The care of patients with sickle cell disease does require the expertise of medical sub-specialists at times. Episodes of acute chest syndrome or splenic sequestration crisis are best handled by hematologists who are familiar with these complications. Sickle cell disease also requires coordination with other medical specialists, such as ophthalmologists. In this sense, the disease is no different from any other chronic medical illness, such as diabetes or hypertension. Health monitoring and prevention of complications are key. Health maintenance, which has become a shibboleth in many discussions of medical care, can truly be achieved for patients with sickle cell disease. Further, the savings to society in avoiding lost productivity and unnecessary medical expense is significant. More significant is avoiding unnecessary suffering by our fellow human beings.
Question: How does a national community-based organization, such as SCDAA, gain credibility in the medical community?
Answer: By recruiting the voluntary services of some of the brightest professionals in the field.
For SCDAA those professionals serve on the Medical and Research Advisory Committee (MARAC). The members represent institutions from throughout the country and cover all of the disciplines related to providing physical and psychosocial healthcare and assistance for individuals with sickle cell disease.
Under the leadership of the association's Chief Medical Officer, MARAC has oversight in the following areas: content development of educational materials, CEU/CME planning of educational program for the national conference, developing guidelines and protocols for a national counselor certification program and review of research breakthroughs which are then published in SCDAA VIEWPOINTS.
As SCDAA continues its website development, MARAC members will also serve as experts; answering medical questions that are posted on the sites "Sickle Cell Disease Forum" bulletin board. MARAC members will also be taking part in chat room discussions in the coming months.
by Doris L. Wethers, M.D., Director Emeritus
St. Luke's Roosevelt Hospital Center, New York, N.Y.
Sickle Cell Disease in Childhood: Part I
Laboratory Diagnosis, Pathophysiology and Health Maintenance
Sickle Cell Disease in Childhood: Part II
Diagnosis and Treatment of Major Complications and Recent Advances in Treatment
Medical & Research Advisory Committee, SCDAA