SICKLE CELL ANAEMIA MONTH

SEPTEMBER 2012

 
 

Sickle-cell disease (SCD), or sickle-cell anaemia (or anemia, SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells’ flexibility and results in a risk of various complications. The sickling occurs because of a mutation in the hemoglobin gene. Life expectancy is shortened. In 1994, in the US, the average life expectancy of persons with this condition was estimated to be 42 years in males and 48 years in females, but today, thanks to better management of the disease, patients can live into their 50s or beyond. In the UK, the current life expectancy is estimated to be 53–60 years of age.

Sickle-cell disease, usually presenting in childhood, occurs more commonly in people (or their descendants) from parts of tropical and sub-tropical regions where malaria is or was common. One-third of all indigenous inhabitants of Sub-Saharan Africa carry the gene, because in areas where malaria is common, there is a fitness benefit in carrying only a single sickle-cell gene (sickle cell trait). Those with only one of the two alleles of the sickle-cell disease, while not totally resistant, are more tolerant to the infection and thus show less severe symptoms when infected.

The prevalence of the disease in the United States is approximately 1 in 5,000, mostly affecting Americans of Sub-Saharan African descent, according to the National Institutes of Health. In the United States, about 1 out of 500 African-American children born will have sickle-cell anaemia.

Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as “HbSS”, “SS disease”, “haemoglobin S” or permutations thereof. In heterozygous people, who have only one sickle gene and one normal adult haemoglobin gene, it is referred to as “HbAS” or “sickle cell trait”. Other, rarer forms of sickle-cell disease include sickle-haemoglobin C disease (HbSC), sickle beta-plus-thalassaemia (HbS/β+) and sickle beta-zero-thalassaemia (HbS/β0). These other forms of sickle-cell disease are compound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal haemoglobin allele.

The term disease is applied, because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Not all inherited variants of haemoglobin are detrimental, a concept known as genetic polymorphism.

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For more than 35 years, the Sickle Cell Disease Association of America, Inc. (SCDAA) and its 50-plus member organizations and affiliates have demonstrated how community-based organizations can work as partners with medical facilities local and state government agencies to pursue national health care objectives. SCDAA has recognized that one agency cannot meet all the needs and challenges of those living with sickle cell disease (SCD) and their families. As part of its strategic efforts and to enhance its effectiveness, SCDAA has partnered with government, private and other not-for-profit agencies and programs at the local, state, and national levels. These have included National Association for the Advancement of Colored People (NAACP), Urban League, National Institutes of Health (NIH), Health Resources and Services Administration (HRSA), Centers for Disease Control (CDC), the United Way, the Robert Wood Johnson Foundation and many others.

SCDAA continues to recognize how critical it is to garner the needed support for the social and public health aspects of SCD as fundamentals to a comprehensive plan that meet the needs of this population. Over the last two decades, SCDAA has successfully developed partnerships with Health Resources and Services Administration (HRSA), Maternal and Child Health Bureau (MCHB) and Centers for Disease Control (CDC) to develop a number of education, treatment services, delivery and evidence-based efforts to improve the lives of persons with SCD and their and to educate and inform practitioners, service providers and the general public.

In collaboration with SCDAA member organizations and other stakeholder groups, SCDAA’s national efforts involve six broad areas of emphasis:

Research
SCDAA has functioned primarily in an advocacy role in promoting basic and translational research. SCDAA sponsors scholarships to high school students with sickle cell disease to help them pursue their educational goals. The Kermit B. Nash Scholarship awardees are selected from nominations from our member organizations. SCDAA also sponsors Post Doctoral fellowships for young investigators participating in sickle cell disease related research. SCDAA also supports initiative to increase community participation in clinical research. Basic and clinical research efforts are crucially important to expand knowledge of the pathophysiology of SCD and to ensure smooth transition of scientific advances into clinical trials.

Public Health Education
To promote public awareness and education, SCDAA publications include a newsletter, a website and a wide array of educational materials (many translated into Spanish and French Creole) to help educate parents on taking care of their children with the disease, and teach affected individuals how to manage their disease. Through our member organizations, we train healthcare workers on the needs of this population, and educate the general-public about sickle cell disease and sickle cell trait. SCDAA also educates local and federal policymakers on SCD and sickle cell trait (SCT) so that they can make informed decisions when making legislative decisions about sickle cell disease.

Professional Health Education
SCDAA sponsors professional development programs at its annual conference and provides annual technical assistance training for all member organizations. The annual conference lectures include information on the latest clinical, research, and psychosocial interventions in sickle cell disease as well as information on the impact of sickle cell trait.

Patient Services
SCDAA supports and facilitates partnerships between Comprehensive Sickle Cell Centers (and other medical centers) and SCDAA member organizations which provide genetic testing and counseling, case management and psychosocial support for individuals and families impacted by sickle cell disease. SCDAA’s member organizations also provide insurance counseling, pharmacy assistance, financial aid, coping skills development, and other supportive services and referrals. Suffering from an inherited, chronic disorder, patients with SCD require a continuity of care throughout the entirety of their lives. Similarly, individuals carrying the SCT often are unaware that their children are at increased risk for the disease.

Community Services
SCDAA and its member organizations engage in community outreach efforts throughout the United States and Canada. Activities include campaigns to build awareness of SCD and related conditions, educational health fairs, camps for children with SCD, genetic trait testing and follow-up counseling, referral networks, scholarship programs and other special activities. Much of this work is highlighted during National Sickle Cell Disease Awareness Month, which is acknowledged annually in September.

Support to Global Organizations and Practitioners
SCDAA provides ongoing technical support and assistance to providers of SCD-related services in locations outside of North America. Principal among these are providers of such services in African nations, which have a high prevalence of SCD and SCT. SCDAA advocates for national initiatives to provide genetic counseling, newborn SCD screening, infant and pre-natal care, pediatric care, and an increased number of adult facilities with expertise in SCD. Likewise, SCDAA advocates for increased and coordinated federal efforts to support research that will lead to the development of new treatments for SCD, and for a comprehensive effort to discover a cure for the disease.

Unity Gala 2012

The Sickle Cell Disease Association of America (SCDAA) is teaming up with The Foundation for America’s Blood Centers (FABC) to co-host this year’s Unity Gala in Baltimore, Md.’s lively Inner Harbor on Thursday, September 27, 2012. The gala will support the life-saving work of both the FABC and the SCDAA and Rep. Jesse Jackson, Jr. (D-Ill.) will serve as CoChair of the event.

This year marks the 40th anniversary for SCDAA and the 50th for FABC. In an effort to raise greater awareness for sickle cell disease and the importance for uni-versal blood donation, the organizations have partnered to host the 2012 Unity Gala. With 90 years combined experience, SCDAA and FABC have championed tire-lessly for programs and services that help provide quality healthcare to those living with sickle cell disease and others requiring blood donation as means to survival or life enhancement. SCD affects close to 100,000 individuals in the US and over 2 million Americans carry the sickle cell trait. Jointly SCDAA and FABC serve a constituency of over 18 million Americans within its networks.

The FABC funds initiatives of America’s Blood Centers’ members that help to im-prove the availability, quality, and safety of the blood supply. SCDAA works to ad-vocate for and enhance its membership’s ability to improve the quality of health, life, and services for individuals, families, and communities affected by sickle cell disease, while promoting the search for a cure for people affected by this disease. Since sickle cell disease (SCD) patients require frequent blood transfusions, the partnership is a natural fit for these two organizations and resonates with SCDAA’s Annual Convention theme of “Renewing the Fight : One Community-One Cause-One Voice.

Your participation would not only inspire those living with this debilitating disease to remain positively hopeful but also support the efforts to raise awareness for sickle cell disease, recognize the importance of blood donation and most importantly assist in the creation and expansion of providing quality research, healthcare and services to those affected by sickle cell disease as well as the many depending on blood do-nations as a means of survival.
Help make sickle cell disease and blood donation a national health priority.

Support the “Unity Gala” today!