• Red blood cells (left) and sickle cells blocking blood flow (right)

    SOURCE

    June, 2016

    Researchers hope to shed light on symptom severity, family role

    People with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms result when mutated red blood cells take a sickle shape, blocking blood flow and decreasing oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, and why these symptoms differ from person to person.

    Researchers at the National Human Genome Research Institute (NHGRI) are seeking help from people affected by SCD to find the factors – environmental, social and genetic – that impact the severity of symptoms. They hope to develop guidelines and educational programs aimed at reducing the severity of SCD symptoms.

    “Scientists identified sickle cell anemia in 1910, but there is still much to learn about the disease,” said Vence L. Bonham, Jr., J.D., an associate investigator with NHGRI’s Social and Behavioral Research Branch, Division of Intramural Research. “We aim to improve our understanding of the disease.”

    SCD occurs in people who inherit two copies of the sickle cell gene, one from each parent. This produces abnormal hemoglobin, called hemoglobin S.[Hemoglobin is the protein molecule in red blood cells that carries oxygen from the lungs to the body’s tissues and returns carbon dioxide from the tissues to the lungs.] When an individual inherits one copy of the sickle cell gene from a parent, the person is said to have sickle cell trait (SCT). People with SCT usually do not have any of the symptoms SCD and live a normal life.

    SCD affects approximately 100,000 Americans. Among African Americans, 1 in every 365 is born with sickle cell disease and about 1 in 13 are born with sickle cell trait. Although the risk is greater among African Americans, many people are affected by both SCD and sickle cell trait, including those from Latin America, Mediterranean countries, the Middle East, Asia and India.

    The goal of Mr. Bonham’s study, Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study), is to improve the understanding of participants’ health status by studying the role of the microbiome (bacteria, fungi and viruses living in and on all humans), the genome (all the genes in a person), and the social and environmental factors that may impact their symptoms. Mr. Bonham is recruiting adults living with SCD (18 years or older), with and without leg ulcers. Participants will be seen at the NIH Clinical Center in Bethesda, Maryland.

    “We have organized a multidisciplinary team of experts to explore how the disease varies from person to person,” said Mr. Bonham. “They will seek to understand things like the role of stress, the impact of the microbiome and social factors on health status and quality of life.”

    In addition, Dr. Koehly’s research aims to understand how families are affected by SCD and the different factors that help or hurt their discussions and understanding about the disease and trait. This information will help Mr. Bonham’s team understand whether the role of the family is important to the onset of symptoms and complications associated with SCD.

    Dr. Koehly’s team is also reviewing available sickle cell resources and will be asking study participants to evaluate these resources and provide feedback on what is missing. Based on that feedback, Dr. Koehly’s team plans to develop resources to help families improve their understanding of SCD, sickle cell trait, and how best to cope with the disease and trait. Dr. Koehly is recruiting adults 18 years or older affected by SCD or SCT, or adults who are related to or married to someone who has SCD or SCT.

    “We want to have as many voices as we can from families with sickle cell disease and trait to understand how they are managing. This will help future generations who are at risk,” said Dr. Koehly. “We want to build the foundation for understanding how families communicate with and provide support to members who are affected by sickle cell. We can only achieve this by really listening to the individuals and their family members affected by this condition.”

     
     

    No comments

    Be the first one to leave a comment.

    Post a Comment


     

     

    Latest Posts

    2017 Update on obstetrics

    These experts discuss the practical clinical implications of new society recommendations for antenatal steroid administration, low-dose aspirin for preeclampsia prevention,... Read more →

    Latest Video

     
     

    LATEST POSTS

    Glaucoma gene therapy on positive trajectory using CRISPR-Cas9

    SOURCE May 02, 2016 Seattle—Results from a series of preclinical studies are providing proof of principle that gene targeting using…

    Mark Bertolini: The new definition of Quality in Healthcare is Convenience

      “… in studying the healthcare system we know one thing: the cheapest place to provide care is in the…

    Gentle Bot: 3D printing a robot with feelings

      3D printing is enabling strong advances in the field of soft robotics. New research from Cornell University has created robotic hands…

    Multiregional brain on a chip

     SOURCE (Nanowerk News) Harvard University researchers have developed a multiregional brain-on-a-chip that models the connectivity between three distinct regions of…

    2017 Update on obstetrics

    These experts discuss the practical clinical implications of new society recommendations for antenatal steroid administration, low-dose aspirin for preeclampsia prevention,…

    Stem cells grow cartilage to fix hips

    A 3D scaffold has been molded into the precise shape of a hip joint. The scaffold is covered with cartilage…

    Tool predicts if prostate cancer will return after surgery

    SOURCE A tool that analyzes the expression patterns of four genes might help doctors predict if prostate cancer will reoccur…

    New way of imaging eyes could spot glaucoma sooner

    SOURCE A new imaging technique has given researchers the first look at individual cells at the back of the eye…