AUG 10, 2016 2:15 PM PDT

What's Causing Heart Complications in Sickle Cell Anemia Patients?

WRITTEN BY: Kara Marker
Cardiovascular problems are among the top causes of death in people with sickle cell anemia, a genetic disease caused by a mutation in the beta-globin gene. In a new study from the Cincinnati Children’s Hospital Medical Center, scientists made it their mission to get to the bottom of the heart complications that occur uniquely in patients with sickle cell anemia. 
Credit : chicagotonight.wttw.com
Using a mouse model of sickle cell anemia, Cincinnati researcher performed a series of non-invasive tests to investigate the effect sickle cell anemia has on the heart. Tests included cardiac MRI, electrocardiography, microscopy of isolated heart tissue cross sections, and a transcriptome analysis to understand the presence and level of gene expression of certain genes associated with heart function.

In order to be assured that the results from the tests were unique to cases of sickle cell anemia, researchers compared the findings to those of mice with chronic, iron-deficient anemia. 

The unique results that they ended up with identified a so-called “restrictive cardiomyopathy” associated with an enlargement of the heart occurring because of sickle cell anemia. The diseased heart muscle “predisposes the myocardium to electrophysiological abnormalities and sudden death,” the authors write.

From the transcriptome analysis, the researchers found further confirmation of cardiovascular complications from sickle cell anemia: upregulation of genes causing increased oxidation, hypoxia and fibrosis of cardiovascular tissue, in addition to down regulation of genes vital for successful electrophysiological function. 

The gene expression trends the researchers derived from the transcriptome analysis were all observed right before many mice models of sickle cell anemia died suddenly.

Studies continue on heart complications associated with sickle cell anemia; the sickled blood cells that characterize the disease clog blood vessels, putting people at a higher than normal risk for infection in addition to organ damage from oxygen deficiency. Using genetic knockout mice, scientists are still looking at identifying the specific molecular mechanisms and pathways that trigger cardiovascular fibrosis. “Identification of these pathways will allow development of new targeted therapies to treat cardiac dysfunction in people with sickle cell anemia,” said senior author Punam Malik, MD.

Clinical trials will soon be underway to test humans with the same non-invasive tests used successfully in the mouse model study. Whether induced by sickle cell anemia or not, detecting fibrosis in the heart as early as possible is vital to achieving the best prognosis possible for patients with cardiovascular complications.

This study was recently published in the journal Proceedings of the National Academy of Sciences
 


Sources: Cincinnati Children’s Hospital Medical Center, National Heart, Lung, and Blood Institute
About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
OCT 21, 2019
Drug Discovery & Development
OCT 21, 2019
Therapeutic Targets Inflammation Associated with Genetic Heart Disease
Often times when young athletes collapse during the game it is due to sudden cardiac death as a result of the inherited ...
NOV 01, 2019
Clinical & Molecular DX
NOV 01, 2019
myTAIHEART Blood Test and Biopsy of Heart Transplant Recipients
Transplant rejection is a process where the immune system of the patient consider the donor's organ as foreign and rejects them. This is because t
NOV 20, 2019
Cardiology
NOV 20, 2019
Americans Continue to Gain Weight Despite Increased Weight loss Efforts
Body mass index (BMI) is an important health measure. BMI is defined by the Centers for Disease Control and Prevention (...
DEC 19, 2019
Health & Medicine
DEC 19, 2019
Obesity on the rise in the United States
Even with a decade full of diet trends and superfoods, obesity rates in the United States continue to climb. According to a study published this week by 20
JAN 15, 2020
Cardiology
JAN 15, 2020
Women's Blood Vessels Age Faster than Men's, Study shows
Around 75 million Americans have high blood pressure, or roughly 1 in every 3 adults. Now, new research has shown that women’s blood vessels age fast
JAN 29, 2020
Cardiology
JAN 29, 2020
Eating Eggs Everyday Not Linked to Heart Disease
The common controversy over whether eating eggs is bad for heart health may finally have been dissolved thanks to new findings by scientists at McMaster Un
Loading Comments...