Anemia
New advances in genetic studies of Fanconi anemia patients
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A consortium of thirty-two researchers worldwide, led by Dr Jordi Surrallés, professor of the Department of Genetics and Microbiology at Universitat Autònoma de Barcelona (UAB) and member of the Centre for Biomedical Network Research on Rare Diseases (CIBERER), genetically and clinically characterised almost all Spanish patients suffering from Franconi anaemia, a rare disease affecting one in every 500,000 persons and which is characterised by severe anaemia in children, congenital malformations and a high predisposition to cancer.
A hundred people in Spain suffer from Fanconi anaemia; 80% of these present mutations in the FANCA gene. In the research, 90% of these patients were studied, as well as patients in Brazil, Mexico, Argentina, Peru, United States, United Kingdom, Portugal, Germany, Pakistan and Nigeria.
The research includes characterisation of over 130 pathogenic mutations in the FANCA gene, present in two of every three cases in almost all of the countries analysed, as well as the study of the origin and world distribution of some of the most frequent mutations. The mutation predominating in Spain and in the rest of countries is an ancestral mutation of Indo-European origin which spread throughout Europe thousands of years ago and which reached America across the Atlantic, producing founder effects in areas such as La Palma, with a high prevalence of the disease, and Brazil, where half of all patients share the same gene mutation.
Burning straw, dung tied to kids’ anemia
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Households in developing countries that regularly burn wood, straw, dung and other natural materials are more likely to also contain children with anemia, a new report finds.
Families in 29 countries who burned so-called “biofuels” for cooking or heating were 7 percent more likely to include a child with mild anemia.
When the researchers from McMaster University in Canada compared national-level data, they found that the countries with more residents burning biofuels were also home to more children with moderate or severe anemia.
Anemia Tougher to Tackle in Black Children with Kidney Disease
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Black children with chronic kidney disease have more severe anemia than white children even when they receive the same treatment, according to a multicenter study led by Johns Hopkins Children’s Center to be published in the May issue of the American Journal of Kidney Disease.
The findings suggest that inherent biological differences, rather than access to care and treatment, may be at play, raising the question whether current guidelines for anemia treatment should be tailored to reflect race, investigators say.
Anemia, marked by abnormally low levels of red blood cells, is a key indicator of disease status. It is diagnosed by measuring levels of the protein hemoglobin, which carries oxygen in and out of red blood cells.
Vaccines could halve sickle-cell deaths in Africa
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In Africa, children with sickle cell anemia develop bacteremia -bacterial infection of the blood - at rates up to 30 times higher than in children without sickle cell anemia.
However, actions as simple as vaccinating against the bacteria that cause bacteremia using vaccines readily available in developed countries could save the lives of thousands of children with sickle-cell anemia in Africa, researchers said on Thursday.
Sickle-cell anemia affects millions of people worldwide, but more than 80 percent of cases are in Africa, where around 200,000 children are born with the disease every year. It is a genetic disease in which red blood cells deform into a sickle shape. These sickled cells cluster together, blocking blood flow and causing pain, vulnerability to infections and organ damage.
Anemia increases risk of breast cancer recurrence
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Women with breast cancer who developed anemia during chemotherapy had nearly three times the risk of local recurrence as those who did not develop anemia, according to a study published this week.
“We speculate that there may be an interaction between chemotherapy/radiotherapy and anemia,” study chief Dr. Peter Dubsky, from the Medical University of Vienna, Austria, said in a statement.
“Both treatment modalities have been shown to be less effective in anemia patients. Since we do not see the effect in terms of relapse-free survival, the interaction with local adjuvant treatment may play a more important role,” Dubsky added.
Severe anemia in African kids has multiple causes
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Severe anemia is associated with considerable illness and death in African children and the results of new study conducted in Malawi indicate that multiple causes are to blame. The information from this study could lead to new ways to prevent and treat severe anemia in African children, researchers say.
Interestingly, folate and iron deficiencies, which are widely believed to be the most common causes of severe anemia in African children, were actually not prominent causes, according to Dr. Job C. J. Calis, from the Academic Medical Center in Amsterdam and colleagues.
They examined the causes of anemia by conducting a case-control study of 381 severely anemic preschool-age children and 757 children without anemia. The subjects were drawn from both urban and rural settings in Malawi.
Anemia treatment may be a double-edged sword
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Erythropoietin has so far been known to doctors as a hormone that boosts red-blood-cell production. Now, a mouse study led by Lois Smith, MD, PhD, an ophthalmologist at Children’s Hospital Boston, shows it also keeps blood vessels alive and growing in the eye. The findings not only add a new function to the hormone, but also give doctors a reason to pause before prescribing it to patients with diseases affected by abnormal blood-vessel growth, such as retinopathy and cancer.
The study, published in the February issue of the Journal of Clinical Investigation (online January 24), also found that whether the hormone is a risk or benefit depends on the timing of administration.
Smith and first author Jing Chen, PhD, worked in mice with retinopathy, an eye disease that begins when healthy blood vessels nourishing the retina die. Numerous vessels then grow in, but they are deformed. Ultimately, the deformed vessels may pull the retina off the back of the eye, causing blindness.
New anemia measure predicts risk of death in dialysis patients
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A new indicator of variations in hemoglobin level over time is a strong predictor of the risk of death among patients receiving dialysis for end-stage renal disease (ESRD), reports a study in the December Journal of the American Society of Nephrology.
“Hemoglobin variability—a measure of the stability of levels of hemoglobin among chronic hemodialysis patients—provides a novel way of thinking about and understanding the relationship between anemia and outcomes in ESRD,” comments Dr. Harold I. Feldman of University of Pennsylvania School of Medicine, Philadelphia, one of the study authors.
Anemia may raise stroke risk in young children
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Iron-deficiency anemia is 10 times more common among young children who have suffered a stroke than among their peers who have not had a stroke, new research indicates.
Iron-deficiency anemia is known to occur in up to 8 percent of children between 1 and 3 years of age. A deficiency of iron in the diet is the most frequent cause of this anemia.
Mortality Rate Increases for Kidney Recipients with Anemia
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According to a new study in American Journal of Transplantation, kidney transplant patients suffering from anemia, a treatable blood deficiency, are more likely to die or suffer from organ failure than other transplant recipients.
“During a four year period following kidney transplantation, we found that anemic patients were 70 percent more likely to die following their transplant, and two and a half times more likely to again require dialysis,” says study author Dr. Istvan Mucsi.
