Nav: Home

NIH researchers find a potential treatment for disorders involving excess red blood cells

February 26, 2018

Researchers at the National Institutes of Health have cured mice with Chuvash polycythemia, a life-threatening disorder that involves the overproduction of red blood cells. They treated the mice using Tempol, an experimental drug being studied for treatment of diabetes, cancer and other diseases. The findings offer hope that Tempol or a similar drug may treat polycythemias that affect humans, such as mountain sickness--a serious blood complication experienced in low-oxygen, high-altitude settings. The study appears in The Journal of Clinical Investigation.

Chuvash polycythemia is a rare, inherited disorder that is endemic to the Chuvash Republic of Russia, though it does occur in other parts of the world. NIH studies rare diseases not only to help the people who have them, but also to gain insight into gene functions that may benefit people with more common conditions. Complications of Chuvash polycythemia include blood clots and cerebral hemorrhage. The condition results from a genetic mutation that makes people unable to break down hypoxia inducible factor 2α (HIF2α), a protein that helps stimulate red blood cell production. The inability to degrade HIF2α leads to higher red cell production, even under high-oxygen conditions.

In the current study, researchers at NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development fed a diet containing Tempol to mice with Chuvash polycythemia. After three to six months, the animals' red blood cell levels dropped, and the symptoms of their disease--reddish, swollen paws and snouts--went away. Next, the researchers housed normal mice in low-oxygen chambers for 23 days to mimic mountain sickness, and the animals developed polycythemia. Again, a diet containing Tempol reduced the animals' red blood cell counts and accompanying symptoms.
-end-
WHO:

Manik C. Ghosh, Ph.D., Section on Human Iron Metabolism, NICHD

ARTICLE:

Ghosh, MC, et al. Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia. The Journal of Clinical Investigation. https://doi.org/10.1172/JCI97684.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD conducts and supports research in the United States and throughout the world on fetal, infant and child development; maternal, child and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit NICHD's website.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIH/Eunice Kennedy Shriver National Institute of Child Health and Human Development

Related Red Blood Cells Articles:

Red blood cell donor pregnancy history not tied to mortality after transfusion
A new study has found that the sex or pregnancy history of red blood cell donors does not influence the risk of death among patients who receive their blood.
How sickled red blood cells stick to blood vessels
An MIT study describes how sickled red blood cells get stuck in tiny blood vessels of patients with sickle-cell disease.
Red-blood-cell 'hitchhikers' offer new way to transport drugs to specific targets
A new drug-delivery technology which uses red blood cells to shuttle nano-scale drug carriers, called RBC-hitchhiking, has been found in animal models to dramatically increase the concentration of drugs ferried precisely to selected organs,
Novel gene in red blood cells may help adult newts regenerate limbs
Adult newts can repeatedly regenerate body parts. Researchers from Japan, including the University of Tsukuba, and the University of Daytona, have identified Newtic1, a gene that is expressed in clumps of red blood cells in the circulating blood.
Bristol researchers use gene editing to improve red blood cell transfusion compatibility
Synthetic biologists at the University of Bristol have succeeded in generating laboratory-made red blood cells with rare blood group types that could one day be used to help patients who cannot be matched with donor blood.
Healthy red blood cells owe their shape to muscle-like structures
The findings could shed light on sickle cell diseases and other disorders where red blood cells are deformed.
A breakthrough in our understanding of how red blood cells develop
For the first time, cellular machines called ribosomes -- which create proteins in every cell of the body -- have been linked to blood stem cell differentiation.
Decrease seen in red blood cell, plasma transfusions in US
The frequency of red blood cell and plasma transfusions decreased among hospitalized patients in the United States from 2011 to 2014.
NIH researchers find a potential treatment for disorders involving excess red blood cells
Researchers at the National Institutes of Health have cured mice with Chuvash polycythemia, a life-threatening disorder that involves the overproduction of red blood cells.
The amazing flexibility of red blood cells
Red blood cells must be flexible to squeeze through tiny capillaries to deliver oxygen.
More Red Blood Cells News and Red Blood Cells Current Events

Top Science Podcasts

We have hand picked the top science podcasts of 2019.
Now Playing: TED Radio Hour

In & Out Of Love
We think of love as a mysterious, unknowable force. Something that happens to us. But what if we could control it? This hour, TED speakers on whether we can decide to fall in — and out of — love. Guests include writer Mandy Len Catron, biological anthropologist Helen Fisher, musician Dessa, One Love CEO Katie Hood, and psychologist Guy Winch.
Now Playing: Science for the People

#543 Give a Nerd a Gift
Yup, you guessed it... it's Science for the People's annual holiday episode that helps you figure out what sciency books and gifts to get that special nerd on your list. Or maybe you're looking to build up your reading list for the holiday break and a geeky Christmas sweater to wear to an upcoming party. Returning are pop-science power-readers John Dupuis and Joanne Manaster to dish on the best science books they read this past year. And Rachelle Saunders and Bethany Brookshire squee in delight over some truly delightful science-themed non-book objects for those whose bookshelves are already full. Since...
Now Playing: Radiolab

An Announcement from Radiolab