Featured Research

from universities, journals, and other organizations

Rare cause of anemia in newborns often overlooked, research suggests

Date:
December 8, 2013
Source:
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
Summary:
Some babies diagnosed with and treated for a bone marrow failure disorder, called Diamond Blackfan Anemia, may actually be affected by a very rare anemia syndrome that has a different disease course and treatment, say scientists.

Some babies diagnosed with and treated for a bone marrow failure disorder, called Diamond Blackfan Anemia, may actually be affected by a very rare anemia syndrome that has a different disease course and treatment, say scientists from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Related Articles


Genetic analysis of DNA from 175 patients believed to have Diamond Blackfan Anemia, identified eight that showed hallmarks of Pearson Marrow Pancreas syndrome, according to research presented at the 55th annual meeting of the American Society of Hematology.

The treatment choices are difficult in both syndromes, but getting the diagnosis correct is crucial, said Suneet Agarwal, MD, PhD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s. “Some patients with Diamond Blackfan will respond to steroids, but there’s no reason to give steroids to someone with Pearson syndrome -- and they could make things worse,” he said.

Diagnosing Pearson Marrow Pancreas syndrome (PS) is not simple, but a specific laboratory test can spot a characteristic abnormality in the infant’s DNA that carries blueprints for making proteins in the cells’ energy-producing mitochondria.

The test “should be performed in the initial genetic evaluation of all patients with congenital anemia,” said Agarwal, who is also affiliated with the Manton Center for Orphan Disease Research at Boston Children’s Hospital.

The two disorders are caused by genetic abnormalities that impair production of blood cells by the bone marrow, causing severe anemia usually diagnosed in the first year of life. Diamond Blackfan Anemia affects approximately one in 100,000 infants and can vary widely in its severity. About 50 percent of patients have physical abnormalities affecting different parts of the body.

Because Diamond Blackfan Anemia is typically inherited from parents in an autosomal dominant fashion, with only one parent carrying the abnormal gene, each pregnancy carries a 50 percent risk of resulting in an affected child.

Pearson Marrow Pancreas syndrome is so rare that fewer than 100 patients have been reported in the literature in the past 25 years, said Agarwal. The genetic defect usually occurs sporadically, he explained, so parents can be counseled that there should be little or no risk of passing along the disease in subsequent pregnancies.

Infants with PS also have anemia and growth defects. They are deficient in pancreatic function and can have muscle and neurologic impairments. Agarwal says it isn’t always diagnosed in infancy, because the anemia may not be severe and can even improve without treatment. That’s because the patient’s cells carry a mixture of normal and mutant mitochondrial DNA. Over time, the proportion of mutant mitochondrial DNA in the blood cells may lessen and the anemia becomes less severe.

Both conditions can be treated with bone marrow transplants, he said, but the risk-benefit calculation is different. “Most patients with Diamond Blackfan Anemia require blood transfusions into adulthood. If you’re going to do a transplant in a patient with Diamond Blackfan, outcomes are better if you do it early,” Agarwal said.

“Because patients with Pearson Syndrome can get over their blood defect as young children, and because bone marrow transplantation does not cure the other problems in their bodies, the decision to proceed with transplant is more difficult,” he added.


Story Source:

The above story is based on materials provided by Dana-Farber/Boston Children's Cancer and Blood Disorders Center. Note: Materials may be edited for content and length.


Cite This Page:

Dana-Farber/Boston Children's Cancer and Blood Disorders Center. "Rare cause of anemia in newborns often overlooked, research suggests." ScienceDaily. ScienceDaily, 8 December 2013. <www.sciencedaily.com/releases/2013/12/131208090234.htm>.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center. (2013, December 8). Rare cause of anemia in newborns often overlooked, research suggests. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2013/12/131208090234.htm
Dana-Farber/Boston Children's Cancer and Blood Disorders Center. "Rare cause of anemia in newborns often overlooked, research suggests." ScienceDaily. www.sciencedaily.com/releases/2013/12/131208090234.htm (accessed December 20, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, December 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
The Best Protein-Filled Foods to Energize You for the New Year

The Best Protein-Filled Foods to Energize You for the New Year

Buzz60 (Dec. 19, 2014) The new year is coming and nothing will energize you more for 2015 than protein-filled foods. Fitness and nutrition expert John Basedow (@JohnBasedow) gives his favorite high protein foods that will help you build muscle, lose fat and have endless energy. Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins