Sickle Cell Anemia

If the Jeopardy answer is "the genetic disorders which affect one out of every 375 and one out of every 400 Afro-American babies born in the United States", would many people know the answer? Chances are slim that many people would realize that the Jeopardy question is "what is sickle cell anemia and sickle cell disease?"

Sickle Cell Awareness

Although many Afro-Americans have heard of sickle cell disease ("SCD"), few understand that this is the most commonly inherited disorder found in their population, even fewer know if they, or any family member, carry the sickle cell trait.

Vanderbilt School of Medicine performed an awareness study, some years ago, using information from patients of its Emergency Department. What they discovered was that 93% of their African American patients had heard of sickle cell disease and 73% knew that it was a genetic disorder, but only 31% knew their family history of the disease. The significance of these numbers is only realized when comparing them to the incidence of sickle cell disease. The Vanderbilt study may reflect national awareness of sickle cell disease. This is unfortunate, since sickle cell diseases are not Black-only conditions.

Definition of Disease and Incidence

Hemoglobin is the protein substance in red blood cells, which is responsible for transporting oxygen throughout the body. Normal adult hemoglobin is referred to as Hemoglobin A. Just as we inherit out eye, hair and sex genes from our parents, we also inherit our hemoglobin type. We receive one gene (unit of inheritance) from our mothers and one gene from our fathers, for all our characteristics.

Sickle cell diseases are characterized by an abnormality in the hemoglobin molecule which causes the red blood cell to change from its round, flexible shape to a banana or "sickle-like" shape. This hemoglobin type is referred to as "S" for sickle. Thus, the name of this group of blood diseases is based on this sickling characteristic. These disorders include sickle hemoglobin (SS), sickle hemoglobin C disease (SC), and the sickle beta thalassemia syndromes.

Sickle cell disease is estimated to affect more than 50,000 Americans and has been identified in people of various different racial and ethnic backgrounds. The estimated prevalence of the common sickle cell disease types (variants) in African-American live births is one in every 375 got sickle cell anemia, one in every 835 for sickle hemoglobin C disuse, and 1 in every 1,667 got the sickle beta thalassemia syndromes. While sickle cell disease is the most common in people of African descendant, it is not a Blacks-only disease. Although 90% of all sickle cell disease victims are of African ancestry, the remaining 10% are people of Mediterranean, Caribbean, South and Central America.

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or pregnant, sickle cell patient has special concerns, because the disease can affect both her and her baby. Pregnancy sickle cell patients have a high incidence of Caesarean births, toxemia, and placental abnormalities. Miscarriages and pre-term labor rates are high in the sickle cell mom. In the case of pre-term labor, sickle cell patients have a 50% higher risk than other patients. Fetal death rates are no more than 25%. Regarding direct care, the sickle cell patient has general complications of anemia, urinary tract infections, and acute chest syndrome. Close monitoring is a key concept for the pregnant sickle cell patient to insure the health of mom and baby.

In regards to babies born with sickle cell anemia, parent education and early screening are key. In 1986, a National Institutes of Health Consensus Conference on newborn screening concluded that newborn screening could reduce morbidity (incidence of complications) and mortality, provided this screening was linked to the provision of comprehensive health care services and the administration of penicillin prophylaxis beginning at two (2) months and continuing until at least the age of five (5) years. As a result, over 40 states now provide newborn screening for sickle cell diseases.

Many infants are diagnosed with sickle cell at birth through newborn screening. A variety of symptoms associated with sickle cell anemia manifest as early as the first few months of life. These symptoms include jaundice (elevated bilirubin), colic, fever, nausea, vomiting, irritability and failure to thrive. Heart murmurs, pallor, and hepatosplenomegaly (enlarged liver and spleen) are not uncommon findings in a child with sickle cell disease. Sickle cell anemia has been associated with high mortality in early childhood due to overwhelming bacterial infections, splenic sequestration, and acute chest syndrome.

Sickle cell diseases carry a life-long risk of complications and parents should exercise good health practices. Parents need to keep immunizations up-to-date and keep good health records. Keep records of immunizations, febrile illnesses, reactions to vaccines, medications, and hemoglobin diagnoses. Monitoring temperature and hydration is crucial since both infection and dehydration can occur rapidly. Adequate nutritious diets, which include lots of fluids, fresh fruits, and vegetables, should be followed. Additionally, parents should also look for physicians with knowledge and experience in treating sickle cell patients.

Controversy

Individuals with sickle cell disease suffer more than health concerns; they are constantly faced with issues the entail misconceptions and misinformation about sickle cell disease and it's carrier state. Controversy and misunderstanding continue to surround sickle cell disorders, such as headlines which report unexplained deaths and complications of military recruits identified with only sickle cell trait, insurance companies which deny coverage and inflate premiums, outdated and inappropriate treatment regimes and refusal of primary care providers to put children on penicillin prophylaxis when it has been proven to save lives.

If medical problems were not enough, many with sickle cell diseases are faced with employment and legal problems. It is against the law to discriminate against a sickle cell patient for housing and employment.

Also, sickle cell parents, who had undergone solubility tests, versus other more accurate tests, and had been told that they were not "at risk" for having a child born with sickle cell disease, are filing wrongful life lawsuits. These tested parents, who trusted their physicians to use state of the art testing for such a life-altering experience, subsequently had children with sickle cell disease and unforeseen, ongoing medical costs.

Conclusion

The treatment of sickle cell disease is limited to managing complications and pain. As of yet, sickle cell disease cannot be cured. Patients with family histories of the disease or trait should be tested and followed regularly. There are genetic counselors, hematologists, psychiatric counselors, patient educators, occupational/physical therapists, and other professionals that can help patients and their families treat and manage the various problems they may encounter. There are numerous Sickle Cell Centers, support groups, and community based information or for the names of agencies in your specific area, call a National Institute of Health (NIH) Comprehensive Sickle Cell Center. The battle against sickle cell disuse can be won... not only in the medical community, but also through the various people and agencies, which support them.