Sickle Cell Disease & International Relations

SC disease, an autoimmune recessive condition, is an inherited abnormality of red blood cells. Affected children inherit two copies of an abnormal hemoglobin gene, one from each parent. For couples where both individuals carry one copy of the abnormal gene, described as having SC trait or being a carrier for SC disease, there is a 1 in 4 chance of future children being affected by the disease (?) From a biomedical perspective, a high potential for benefit from sharing research-generated SC disease findings stems from a positive health impact of comprehensive forms of health care. Without care, symptoms can be very severe and life threatening, mainly resulting from obstruction to small blood vessels, chronic anemia, acute breakdown of blood cells and increased risk of serious infection. Although environmental and genetic factors influence severity, without care many children in malaria endemic settings are likely to die in their first few years of life. In contrast, quality of life is significantly improved where comprehensive care programs are in place, typically in high-income settings, leading to a median adult survival of 48 years SC trait is generally seen as a benign condition whose main implication is an increased future reproductive risk for the disease.
The disease originated in at least 4 places in Africa and in the Indian/Saudi Arabian subcontinent. It exists in all countries of Africa and in areas where Africans have migrated .It is most common in West and Central Africa where as many as 25% of the people have sickle cell trait and 1-2% of all babies are born with a form of the disease. In the United States with an estimated population of over 270 million, about 1,000 babies are born with sickle cell disease each year. Approximately 70,000 - 100,000 individuals in the United States have sickle cell disease and 3 million have sickle cell trait. In contrast, Nigeria, with an estimated 1997 population of 90 million, 45,000-90,000 babies with sickle cell disease are born each year.
The transatlantic slave trade was largely responsible for introducing the sickle cell gene into the Americas and the Caribbean. However, sickle cell disease had already spread from Africa to Southern Europe by the time of the slave trade, so it is present in Portuguese, Spaniards, French Corsicans, Sardinians, and Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease appears in most of the Near and Middle East countries including Lebanon, Israel, Saudi Arabia, Kuwait and Yemen. Sickle Cell has also been reported in India and Sri Lanka. Sickle cell disease is an international health problem and truly a global challenge.
The most common genotype is homozygous SS disease. S-Hemoglobin C (SC) disease, Sβ+ thalassemia and Sβ0 thalassemia are also relatively common and is a result of migration of people originating from these regions. People who carry just one βS mutation have the sickle cell trait (HbAS), and are generally asymptomatic. However there is emerging data which suggest that having sickle cell trait may be associated with increased risk for adverse health outcomes such as venous thrombosis and obstetric complications. The frequency of the sickle cell trait (AS) has been estimated is as high as 25% in Riyadh, Saudi Arabia; 31% in Parthenon, Greece; 38% in Southeast India and 40% in Central Africa which reports that each year about 300,000 infants are born with a hemoglobinopathy, 200,000 of whom are born in Africa (World Health Organization 2006). Whereas SCD occurs in 1 in 500 African-American births, in Jamaica it occurs in 1 in 150 births. Most countries do not have exact figures for SCD prevalence, but estimated suggest that there are 12,000 persons with SCD in United Kingdom (Streetly A et al. 1997) and about 72,000 in the United States (Bonds 2005).

Psychosocial effects
In assessing the seriousness of this disease, no one should underestimate its emotional and social impact. The patient endures not only the pain itself but also the emotional strain from unpredictable bouts of pain, fear of death, and lost time and social isolation at school and work. It is also known that psychological and social factors contribute substantially to complaints of pain. Sociodemographic factors such as race, gender, age, education, and socioeconomic status as an index of attained wealth, as well as general psychological factors such as coping style, coping capacity, and social support, have been used to explain differences in disability associated with pain intensity, pain threshold, and pain tolerance, both clinically and in research settings Africans are taught to cope with pain so a child may just be silent and endure while Americans are encouraged to speak about any and all ailments. I contribute this to be why we are a culture of running to the Dr for something as small as a stubbed toe or runny nose
These problems continue over the years, and both children and adults with sickle cell disease often suffer from depression. The financial costs of medical treatments combined with lost work can be very burdensome. Even poor Americans have an advantage over poor countries when it comes to health care for Sickle Cell Disease because of free medical services given through government funded programs such as Medicaid. Any chronic illness places stress on the patient and family, but sickle cell patients and caregivers often face great obstacles in finding psychological support for the disease. People who live in village based communities across the globe such as Africa and people of island decent have a disadvantage just because they have to trek several hours if not days to get medical treatment. This can become fatal in what may seem a short period of time (think typical E.R waiting time) because Sickle Cell patients are immediately seen when it comes to any perceived crises such as a slight fever warrants emergency care. Another advantage is that Americans are subjected to newborn screening test at the birth of their children which notifies the parents of any diseases that their child has which prepares them of what to expect and early intervention treatments and or meds that can alleviate some or most complications from the start of life.
Sickle cell disease carries a huge psychosocial burden impacting on physical, psychological, social and occupational well-being as well as levels of independence. Psychological complications in patients with SCD mainly result from the impact of pain and symptoms on their daily lives and society's attitudes towards them have shown that society's attitudes and perception not only have a psychological impact on patients with SCD, but that health beliefs can be influenced by their culture, family support and work responsibility. African cultures don’t believe in modern medicine for the treatment of SC and they believe through diet and prayer their loved one is fine and God’s will say the outcome. Many (American) Africans believe this and it can be detrimental to their American child because the disease and what comes with it is still prevalent. SC is visually noticeable in these cases because of the rejection of modern meds like penicillin, jaundice usually occurs which causes the billiruben in their eyeballs to get extremely yellow. This is an identifiable trait in SC patients and commonly accepted in their culture but in American culture where everyone is a health fanatic it is not easily socially acceptable. Studies have shown increased anxiety, depression, social withdrawal, aggression, poor relationships and poor school performance on both sides of the globe. A few case reports also indicated high levels of parental anxiety, overprotection, excessive feelings of responsibility and guilt (Graham et al. 1982; Strickland et al. 2001; Whitten and Fischhoff 1974).
Coping and Adjustment
SCD is a huge stressor to which both the one afflicted with it as well as his/her family and friends will potentially have difficulties adjusting and coping with. As pain is a longstanding complication in SCD, American cultures have shown that those with good adjustment had better family support, lower levels of perceived stress, lower negative thinking/passive adherence pain-coping strategies and higher efficacy. The United Kingdom (Anie et al.2002b) has also demonstrated psychological coping patterns to be related both to pain experiences as well as to broader adjustment issues. Children with SCD exhibit lower adjustment and behavioral problems than adolescents (Hurtig and White 1986) and boys have greater problems than girls.
Quality of Life
Studies have been conducted looking at painful crises, coping, work and social activities, and quality of life (QOL) in adult patients with SCD in UK and USA (Anie et al. 2002b; Gil et al. 1992; Ohaeri et al. 1995; Strickland et al. 2001). Some common complaints identified have been the limitations illness placed on social life; depressive feelings; abnormal habits; suicidal ideation during crises; and the burden of illness on the family. Adults with sickle cell disease have reported poorer quality of life in comparison with the general population. The role limitations due to physical and emotional problems, lack of vitality and poor general health perceptions have been particularly marked. Some of these impairments are similar to those found in other chronic painful conditions, as the comparisons with hemochromatosis indicated. The recently reported study on QOL in the PiSCES (Pain in Sickle Cell Epidemiology Study) group (McClish et al. 2005) has also found that SCD patients experience health related quality of life worse than the general population. In Jamaica, persons living in rural areas have reported better QOL than those in urban areas and this probably results from stronger social support mechanisms available to them.

Management
Management of SCD requires a comprehensive, multidisciplinary approach, and involves managing not only the patient, but also the family as well as others who may be affected by the patient's illness. The components of comprehensive care include patient/parent information, genetic counseling, social services, prevention of infections, dietary advice and supplementation, psychotherapy, renal and other specialist medical care, maternal and child health, orthopedic and general surgery, pain control, physiotherapy, dental and eye care, etc. In other countries where many barely see a Dr. outside of an urgent life threatening illness or situation many don’t have regular renal eye visits (if any) which is imperative to maintenance of SC disease. Blindness can occur as with kidney shut down, enlarged spleen and blood poisoning from decaying teeth.
Health Maintenance
Education
For decades, complications of SCD produced the highest mortality rate in the first 3 years of life (Leikin et al. 1989). Early diagnosis of SCD, with prenatal diagnosis and neonatal screening, is crucial to implementing life saving measures early in the life of the affected infant. Widespread neonatal screening programs, when linked to timely diagnostic testing, parental education especially with respect to recognizing early symptoms and signs of illness, and comprehensive care, have been shown to be effective in markedly improving survival in SCD (King et al. 2007; Schnog et al. 2004). Once the diagnosis of SCD is confirmed, a counseling and educational session should be held with the parents. All information cannot be delivered at the first session but it will set the tone for future consultations. Genotype specific information is provided at this session. Nutritional counseling, management of fever and painful episodes, academic and vocational counseling, pregnancy and other reproductive issues all need to be addressed. Children should be given more frequent routine appointments than adults who should be seen at least twice yearly.
Prevention of Infections
The most important intervention, to be started at age 4 months, is the implementation of penicillin prophylaxis, whether with twice daily oral penicillin or 4-weekly intramuscular benzathine penicillin, to prevent pneumococcal infections. This is given to age 4 years at which time the pneumococcal vaccine is given, and this regimen has been shown to improve outcomes. By providing instructions to patients and caregivers about splenic palpation and assessment of worsening pallor there have been marked improvements in mortality rates from splenic sequestration crises and aplastic crises respectively (Steinberg 1999).
Other steps to ensure prevention of infection include strict attention to hygiene, regular hand-washing, and avoidance of ingesting poorly cooked or contaminated foods, especially chicken and egg which may be implicated in Salmonella infections. This is definitely a challenge in poorer countries and village communities where miles are walked just to retrieve clean water. Of course, proper complete immunizations need to be administered throughout the lifetime of persons with SCD (which many don’t get outside of U.S and is major cause for higher children’s mortality rate) Other than the pneumococcal vaccine, other vaccines that are important are Homophiles Influenza, Neisseria meningitides, Hepatitis B and Influenza.
. All these countries must work together to solve the problem and find effective treatments and ultimately a cure. The knowledge and expertise in the management of sickle cell disease acquired in the technologically advanced countries must be shared with the less developed countries where patients die at alarming rates.