Rare Patients With Sickle Cell Disease Live Nearly Twice National Average, Finds New Study

Highlights

• Sickle cell disease (SCD) is the common form of an inherited blood disorder
• Life expectancy of people with SCD has normally been around 42-47 years
• Family support is the key factor for long life expectancy and quality of life of the SCD patients

What is Sickle Cell Disease (SCD)?

Sickle cell disease (SCD) refers to a group of disorders affecting the structure of hemoglobin. SCD mutations produce abnormal hemoglobin molecules called hemoglobin S which causes sickle-shaped red blood cells with a tendency to agglutinate. SCD is usually diagnosed within a few months of birth with symptoms like anemia, frequent infections, pallor, listlessness and irritability. The sickling red blood cells get stuck in blood vessels and capillaries depriving major tissues and organs of blood circulation.

This can lead to painful episodes and complications like pulmonary hypertension (high blood pressure in the lungs) and even heart failure.

At present, there is no cure for SCD though gene therapy is in the research stage.

Sickle Cell Disease (SCD) and Mortality

The World Health Organization (WHO) declared SCD a public health priority. On an average there are nearly 300,000 live births/year. In developed countries such as the United States and United Kingdom have worked towards reducing mortality from 3 to 0.13 per 100. This has been possible with interventions such as newborn screening, coordinated comprehensive care.

The life expectancy of people with SCD has normally been around 42-47 years. Most mortality cases result from organ damage, heart failure and strokes. However, a new report (Oct 2016) published in Blood, the journal of the American Society of Hematology has shown that people with mild symptoms of SCD are now leading longer lives with proper coordinated care, medicines and other therapeutic interventions.

The research paper uses four case studies of women with mild SCD who have overtaken the median age of 47 years. These four women are now around 85-86 years. These women received comprehensive care, timely interventions and led healthy lifestyles. These four women can serve as role models for people with SCD to take charge of their health and opt for healthy lifestyles.

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Three of the women were treated at the Sickle Cell Center of Thomas Jefferson University while the other in Brazil's Instituto de Hematologia Arthur de Siqueira Cavalcanti in Rio de Janeiro. Two of these women had African-American ancestry, one had Italian-American ancestry and the other had African-Brazilian ancestry.

According to the report author Samir K. Ballas, MD, Professor Emeritus in the Department of Medicine at Sidney Kimmel Medical College at Thomas Jefferson University in Philadelphia; the women’s longevity can be attributed to a combination of lifestyle improvements, family support and compliance with treatment. None of the women smoked and consumed very little alcohol. They maintained a healthy weight with a normal body mass index (BMI).

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Since these women had mild SCD symptoms they never received hydroxyurea (HU). They received blood transfusions whenever required, adequate hydration, timely vaccinations and pain management. Healthcare providers and support workers encouraged them to maintain healthy body weight, avoid smoking and comply with treatment.

Dr. Ballas also reveals that these women did not present with the usual severe complications accompanying SCD. The women never had strokes or recurrent acute chest syndrome. They also had a higher level of fetal hemoglobin and had fewer painful episodes. However, they did have mild complications requiring medical attention like occasional acute chest syndrome accompanied by fever, cough, severe pain and breathlessness.

Dr. Ballas said that the report had some limitations in that it had just four case studies and all were women. Women may live longer because men with SCD tend to have higher blood viscosity. However, men with SCD would benefit from these women’s lifestyle improvements.

These four case studies give hope to the SCD community who can also make similar lifestyle changes and stay on top of their treatment plans and medical regimens. There is no reason why people with SCD cannot live beyond 40 if they follow healthy lifestyles and receive the right intervention at the right time.

References:

1. Sickle Cell Disease - General Information - (http://www.sicklecelldisease.org/)
2. Mortality in Sickle Cell Anemia in Africa: A Prospective Cohort Study in Tanzania - (http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0014699)
3. About Sickle Cell Disease - (https://ghr.nlm.nih.gov/condition/sickle-cell-disease)
4. Case Series of Octogenarians with Sickle Cell Disease - (http://www.bloodjournal.org/content/early/2016/10/03/blood-2016-05-715946?sso-checked=true)

Source-Medindia