Removal of white cells (a type of immune cell) from blood before a transfusion and early surgical removal of the spleen may help protect patients with a genetic blood disease from developing  autoimmune hemolytic anemia (AIHA), a condition where red blood cells are attacked by a person’s own immune…
News
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
A case of hemolytic anemia and high bilirubin in blood may mean that infection with Epstein-Barr virus (EBV) — the most common one leading to mononucleosis — can cause cold agglutinin disease, even in the absence of typical symptoms of infection, a study suggests. In…
A rare type of cancer called histiocytic sarcoma may trigger the development of cold agglutinin hemolytic anemia, a recent case suggests. This malignant cancer, which arises from the transformation of some immune cells present in the connective tissue, should be considered as a secondary cause of cold agglutinin hemolytic…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
Although rare, a new case report highlights that cold type autoimmune hemolytic anemia may be an early manifestation of systemic lupus erythematosus, researchers report. The study, “Cold agglutinin-induced hemolytic anemia as the primary presentation in SLE — A case report,” was published in the Journal of Family…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
A small molecule targeting a protein of the complement system — a large group of plasma proteins that normally react with one another to fight infection — may help prevent the destruction of red blood cells that characterizes autoimmune hemolytic anemia (AIHA), a study suggests. The study “…
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