Study Suggests Sickle Cell Disease May Affect Brain Function in Adults
Sickle cell disease may affect brain function in adults who have few or mild complications of the inherited blood disease, according to results of the first study to examine cognitive functioning in adults with sickle cell disease. The multicenter study, funded by the National
Heart, Lung, and Blood Institute, compared brain function scores and imaging tests in adult patients with few sickle cell complications with results in similar adults who did not have the blood disease.
Researchers report that the brain function scores in sickle cell patients were, on average, in the normal range. However, twice as many patients as healthy adults (33 percent versus 15 percent) scored below normal levels. Those who were more likely to score lower were older and had the lowest levels of hemoglobin, the protein
in red blood cells that carries oxygen in the blood, compared to sickle cell participants who scored higher. Findings from brain magnetic resonance imaging scans did not explain differences
Researchers at 12 sites within the NHLBI-supported
Comprehensive Sickle Cell Centers conducted
the study. Their results were published in the May 12 issue of the Journal of the American
“This study suggests that some adult patients who have sickle cell disease may develop cognitive
problems such as having difficulty organizing
their thoughts, making decisions or learning, even if they do not have severe complications such as stroke related to sickle cell disease,” said NHLBI acting director Dr. Susan Shurin. “Such challenges can tremendously affect a patient’s quality of life, and we need to address these concerns
as part of an overall approach to effectively managing sickle cell disease.”
In Infants with Egg or Milk Allergy, Can
Future Peanut Allergy Be Predicted?
Early results from a study of more than 500 infants with egg or milk allergy indicate that they are highly likely to test positive for allergic
antibodies that are specific to peanuts. This unexpected finding suggests that these infants are at risk for developing peanut allergy later in life and should be evaluated by a health care professional before introducing peanuts into their diet.
The findings appeared in the May issue of the Journal of Allergy and Clinical Immunology.
These are the first published
results from the clinical
group of the Consortium of Food Allergy Research, a major food allergy research program supported by the National Institute of Allergy and Infectious Diseases.
Eggs, milk and peanuts are the three most common allergenic foods for infants. An infant who already has a milk or egg allergy is known to be at risk for later developing a peanut allergy. Another risk factor for peanut allergy is moderate to severe eczema (atopic dermatitis). This is the first systematic
study, however, of the natural development of these three food allergies in very young children.
The researchers encourage parents of children with egg or milk allergy to talk to their doctor before incorporating peanuts or peanut products into their child’s diet.
NHGRI Researchers Use New Sequencing Strategies To Discover Rare
Inherited Illness Rapidly
A team of researchers from the National Human Genome Research Institute has demonstrated a new technical strategy that promises to rapidly determine
the genetic cause for very rare inherited illnesses. Relying on inexpensive,
high-speed sequencing and a newly developed ability to capture pieces of the genome that encode genes, the team diagnosed an extremely rare X chromosome-
linked cleft palate syndrome known to affect just two families.
The disorder, called TARP (talipes equinovarus, atrial septal defect, robin sequence, persistent left superior vena cava), is caused by a mutation in a gene called RBM10.
This is the first example of uncovering a gene defect on the X chromosome by analyzing DNA samples from unaffected carriers. In this case, the DNA came from the mothers of the two affected families. DNA was unavailable from any of the affected male infants because they died before, or soon after, birth. TARP syndrome is 100 percent lethal in males.
The findings were published in the May 14 issue of the American Journal of Human Genetics.
“This study demonstrates the feasibility of using new sequencing technologies
to uncover causative genes for thousands of rare diseases, an effort that historically has been costly and arduous,” said the paper’s senior author Dr. Leslie Biesecker, chief of NHGRI’s Genetic Disease Research Branch. “It is also gratifying to know that the two families known to be affected by TARP syndrome
finally have answers about what causes the devastating disorder that has afflicted their families for decades.”