Prior to 1970, sickle cell disease (SCD) was regarded as a malady of low national profile affecting mainly blacks in Africa and the United States.
In fact, sickle cell disease is one of the most frequently occurring genetic diseases in children and adults.
Although this disease is most commonly encountered in blacks -- one in 500 blacks in the United States -- it also occurs in Hispanics, Middle Easterners, Africans, Greeks, Italians, Sicilians, Turks, Central and South Americans and East Indians. It rarely affects Caucasians.
In 1971, President Nixon stated that SCD was a neglected health condition and that something should be done to help the victims. In 1972, Congress passed the National Sickle Cell Anemia Control Act, which set in motion the development of the National Sickle Cell Disease Program and led to the development of comprehensive sickle cell research centers, education and demonstration programs and improved testing for sickle cell diseases.
The earlier gloom-doom attitude toward sickle cell disease has changed to hopeful optimism.
Early detection of the disease -- just after birth -- has been one of the most important reasons for that change.
Both infants and young children with SCD are more susceptible to serious life-threatening infections such as meningitis, pneumonia and sepsis.
Prevention and control of these infections requires early diagnosis coupled with the prophylatic use of pneumococcal vaccination and the prompt administration of appropriate antibiotics.
The state of New York, when it passed the Conklin Act of 1974, was the first to require that all newborn babies be tested for SCD before leaving the hospital.
To date more than 2 1/2 million newborn infants have been tested in the New York state program, resulting in the identification of about 200 cases of SCD annually.
A newborn screening program for sickle cell disease was introduced at Howard University Hospital in 1972. Since then, more than 13,000 newborns have been tested. Fifty cases of the two most common types of sickle cell disease have been detected.
Newborn screening for sickle cell and other hemoglobin diseases such as sickle cell hemoglobin C disease and sickle beta thalassemia is also currently being performed in the following states: Arkansas, Arizona, California, Colorado, Georgia, Kentucky, New Mexico, North Carolina, Tennessee, Texas and Wyoming.
When the diagnosis of SCD is established in newborn infants they are placed in a follow-up program, and parents are provided genetic counseling and informed about the need for early diagnosis and prompt treatment of bacterial infections, particularly those that cause meningitis, septicemia and pneumonia.
Knowing the infant has SCD can result in prompt and effective treatment of life threatening infection as well as the discovery of undiagnosed sickle cell hemoglobin in a sibling.
In 1979, the District City Council passed legislation mandating the screening of newborn infants for phenylketonuria and hypothyroidism, which are more common in whites than in blacks. In 1983, the Medical Soceity of the District of Columbia approved a recommendation from its Child Health Committee that screening for sickle cell disease be included in an amendment of the District of Columbia Newborn Screening Requirement Act.
This amendment was introduced in the City Council in January 1983 by Chairman David Clarke and cosponsored by a majority of the council members. There has been discussion and a preliminary hearing on the amendment, but no definitive action has been issued by the council.
The delays and hesitation in moving forward with necessary legislation by the council and implementation by the mayor probably arise from a combination of unfortunate situations. Some health providers and consultants still espouse the philosophy that if one cannot cure a condition, there is little or no benefit to the patient to make an early diagnosis.
This concept is utterly untenable in the case of sickle cell disease. With early detection of the genetic blood disorder, and its related hazard of increased susceptiblity of life-threatenig bacterial infections, problems can often be controlled with early counseling, orientation of the parents and good medical care.
Others take the position that the diagnosis of sickle cell disease can be delayed until the infant attends a well-baby clinic, usually at 4 to 6 weeks. The problem with this rationale is that after they leave the maternity unit, many babies, for various reasons, are not taken to clinics at regular intervals. Clearly, one should not miss the opportunity to make the diagnosis during the infant's stay in the newborn nursery.
Another objection has been raised to the cost of neonatal testing for sickle cell disease, which ranges from $15 to $30. A confirmatory diagnostic test at the age of 4 to 6 weeks is recommended for the infants whose initial test was positive. The financial charge is actually minimal, and the test is cost-effective when one considers that an accurate diagnostic test made during infancy need not be repeated.
From the health point of view, there is clear and mounting evidence that neonatal testing for sickle cell disease is a good public health practice. We thus return to the old problem of "paying now or paying later." And if you pay later, you are likely to have to pay more.
It's up to City Council to do the right thing, since babies don't vote and write letters to editors and city officials.