Educating Public on Sickle Cell Disease Risk

In sub-Saharan Africa, members of the public who are carriers of the hereditary disease sickle cell disease must be educated aggressively through public health campaigns to raise awareness of the risks of parenting offspring with the disease if their partner is also a carrier.

This is according to research published in the International Journal of Medical Engineering and Informatics. There are many physical and emotional public health components of sickle cell disease, explains William Ebomoyi of the Department of Health Studies College of Health Sciences, Chicago State University, Illinois, USA. Moreover, there ethical and legal considerations surrounding the screening of newborns for this potentially lethal disease.

Sickle-cell disease (SCD), also known as sickle-cell anemia (SCA) or drepanocytosis is an inherited condition in which a child of parents both of whom are carriers of the associated hemoglobin gene who inherits both copies will produce abnormal red blood cells that are rigid and often sickle-shaped. The disorder causes both acute and chronic health problems, such as repeated infections, severe attacks of pain and potentially stroke and death. Carriers of just one copy of this particular hemoglobin gene tend to have greater resistance to the lethal parasitic disease malaria compared to people without a copy of the gene. However, around 2 percent of the population of sub-Saharan Africa is born with SCD. Moreover, incidence is rising across the globe as populations migrate.

In the age of genomics, however, Ebomoyi suggests that raising awareness of the risks of having children with SCD if both parents are carriers is important. "An aggressive health education of the public is required to maintain a shared responsibility for their courtship behaviour by alerting potential suitors of their heterozygous status," he suggests. He adds that, "Major sickle cell education programmes need to be integrated into the curriculum of elementary, secondary and tertiary academic institutions."

Successful outcome prompts early end to sickle cell anemia clinical trial

Conclusive data show that hydroxyurea therapy offers safe and effective disease management of sickle cell anemia (SCA) and reduces the risk of stroke, prompting early termination by the National Heart Lung and Blood Institute (NHLBI) of a key clinical trial studying the drug's efficacy.

NHLBI officials issued the announcement today, about one year before the study was originally scheduled to end. Going by the title TWiTCH (TCD With Transfusions Changing to Hydroxyurea), the Phase III randomized clinical trial at 25 medical centers in the U.S. and Canada compared standard therapy (monthly erythrocyte transfusions) with the alternative (daily hydroxyurea) for children with elevated transcranial Doppler (TCD) velocities and high risk of stroke.

"Early results indicate that TWiTCH is a success. Hydroxyurea works as well as blood transfusions to lower TCD velocities, which lowers the risk of the child having a stroke," said Russell E. Ware, MD, PhD, principal investigator of the study and director of Hematology at Cincinnati Children's Hospital Medical Center, which served as the study's Medical Coordinating Center.

"A group of outside experts has been reviewing the TWiTCH data every few months to ensure the safety of children in the clinical trial and to monitor the data," Ware explained. "This group met recently and after careful consideration of the interim data results, recommended that the study be stopped since hydroxyurea worked as well as transfusions to lower TCD velocities." The NHLBI and National Institutes of Health (NIH) agreed with the recommendation.

"No child should ever suffer a stroke, which is why it was so important for the NHLBI to support the TWiTCH trial," said Gary Gibbons, MD, director of the NHLBI. "This critical research finding opens the door to more treatment options for clinicians trying to prevent strokes in children living with the sickle cell disease."

The study enrolled its first patient in September 2011 and included children between ages 4 and 16 years with sickle cell anemia and abnormally elevated TCD velocities, which increases their risk of developing a stroke. The current standard therapy for children with elevated TCD velocities is monthly blood transfusions. A total of 121 children were randomized: half received the standard therapy of transfusions while the other half received the alternate treatment with daily hydroxyurea, which has not yet been approved for children with sickle cell anemia.

The clinical data-collection portion of the study was originally scheduled for 24 months, but collection is now being stopped early, after only half of the children have completed the treatment phase.

"We did not know if hydroxyurea would reduce the risk of stroke as well as transfusions, so TWiTCH was an important research study," said Barry R. Davis, MD, PhD, principal investigator for the Data Coordinating Center at the University of Texas Health Science Center at Houston (UTHealth) School of Public Health. "The study has now shown that hydroxyurea has a similar benefit as transfusions, so the study is closing early since the main research question has been answered."

An important reason for testing hydroxyurea is that the current standard therapy of monthly blood transfusions to reduce stroke risk can lead to problems such as antibody formation and iron overload, which are increasingly recognized as a source of morbidity in young patients with SCA.
Over the past decade, the laboratory and clinical efficacy of hydroxyurea has been demonstrated in children and adults with SCA. Originally developed as a drug to treat cancer and infections, hydroxyurea boosts fetal hemoglobin production in SCA, which prevents the red blood cells from acquiring the sickled shape that fuels the many complications. Hydroxyurea has been previously shown to have clinical efficacy for a variety of sickle-related complications, but TWiTCH is the first Phase III trial that demonstrates its benefits for children with cerebrovascular disease and increased stroke risk.

Sickle Cell Anemia Treatment So Successful in Kids That Trial Is Halted

Hydroxyurea pills worked as well as transfusions in reducing stroke risk, researchers report

 (HealthDay News) -- A clinical trial of hydroxyurea therapy for children with sickle cell anemia has been halted a year early because the results show it is a safe and effective way to manage the disease and reduce the risk of stroke.
The announcement about the research, which was conducted at 25 medical centers in the United States and Canada, was made this week by the U.S. National Heart, Lung, and Blood Institute (NHLBI).
Researchers compared monthly blood transfusions with daily hydroxyurea pills among children with sickle cell anemia who were at high risk of stroke. To determine this, they measured the velocity of blood flow to the brain in these young patients.
With sickle cell anemia, red blood cells become stiff and sickle-shaped, blocking blood flow throughout the body. Hydroxyurea was first developed as a cancer drug, but with sickle cell anemia it reduces the number of these abnormally shaped red blood cells, the researchers said.
Early results showed that hydroxyurea "works as well as blood transfusions which lowers the risk of the child having a stroke," principal investigator Dr. Russell Ware, director of hematology at Cincinnati Children's Hospital Medical Center, said in a center news release.
"This critical research finding opens the door to more treatment options for clinicians trying to prevent strokes in children living with the sickle cell disease," NHLBI Director Dr. Gary Gibbons said in the news release.
The study began in September 2011 and enrolled 121 children, aged 4 to 16, with sickle cell anemia who showed an increased risk of stroke.
SOURCE: Cincinnati Children's Hospital Medical Center, news release, Nov. 19, 2014

HealthDay

TIF Launches “ThaliMe” App for Thalassemia Patients

The Thalassemia International Federation (TIF) is taking on a new project to develop and deploy an innovative mobile program to greatly aid and improve the lives of people living with thalassemia. The envisioned program, delivered via mobile app, has the potential to reach millions of people around the world living with this challenging disease. (A video demonstration is available by clicking here.)

The overall goals of this program are to give people living with thalassemia, their families and caregivers, a private mobile support network and a suite of tools to simplify daily management and inspire overall health. The ThaliMe app helps to connect the thalassemia community to one another and to those that care for them. The application will be designed with active input from the thalassemia community to ensure value, ease of use and applicability.

ThaliMe App will be easy to use, personalized and provide users with helpful tools to manage everything from medication reminders to appointment scheduling, from mood and mobility levels, to transfusion dates and accessing the latest research. TIF views this approach to patient care and the use of mobile technology for patient empowerment and outreach as a critical component of the overall thalassemia care ecosystem.

More specifically, the goals for the program are to develop a cross-platform mobile tool that enables:
• Private, peer to peer and peer to caregiver support networks to reduce isolation and improve patients sense of support;
• Easy to use, simple health tracking and information management functionality that eases the daily challenges of disease management;
• Data visualization tools that translate health tracking into visual format thus providing an easy and motivating way to chart personal health;
• Medication and appointment reminders to encourage adherence and timely care;
• Educational and research information channel that users can post to privately or share to their social networks, more broadly, like Facebook, Twitter etc. to improve awareness, empowerment and prevention.
The App can be downloaded from the Apple store or Google Play. For more information, contact TIF at thalassaemia@cytanet.com.cy.