Rare Blood

Investigators stress the importance of ongoing research on the association between depression and pain in patients with sickle cell disease (SCD).

Artificial intelligence may be leveraged to improve minimal residual disease measurements for patients.

Approximately 2500 individuals in the United States could be eligible to receive valoctocogene roxaparvovec.

Authors suggest the finding may indicate the cells play a role in hematological malignancies.

The infrastructure also provides a blueprint for similar initiatives in other rare diseases.

A recent review highlighted a selection of emerging therapies and advances in sickle cell disease (SCD) that focus on renal manifestations.

The study also highlighted disparities in accurate diagnosis of myelodysplastic syndromes (MDS).

Skin rashes are common among patients who complete hematopoietic cell transplantation (HCT).

The phase 3 MATTERHORN trial examining roxadustat as an anemia treatment in patients with transfusion-dependent, lower-risk myelodysplastic syndrome did not meet its primary end point.

The new classifications included several major changes and may help identify different subtypes.

To the authors’ knowledge, the study is the first to include a patient with essential thrombocythemia (ET) and MPL and Type 1 calreticulin gene mutations.

Investigators said disease-modifying therapies may change the treatment landscape of sickle cell disease (SCD).

Focus groups show patients who have sickle cell disease (SCD) like the idea of a digital health app for cognitive behavioral therapy (CBT) that allows them to make meaningful connections with people with shared experiences.

The patient had hemophilia A, but reported no trauma preceding the hematoma.

The results of a new focus group offer insights on how and when people with rare diseases are willing to share their personal health information.

Iptacopan elicited improved hemoglobin levels measuring at least 2 g/dL higher vs baseline, leading to transfusion independence after 24 weeks in approximately 92.2% of patients with complement inhibitor–naïve paroxysmal nocturnal hemoglobinuria.

Gene therapies could have a major impact, although the cost and complexities could inhibit their wide rollout, study authors said.

Investigators found patients with acute coronary syndrome were 3 times more likely to die in the hospital.

The data highlight that silent cerebral infarcts represent just a portion of brain injury that occurs in patients with sickle cell disease (SCD), and brain volume can serve as another potential biomarker of brain injury in those with the disease.

These findings underscore the need for improved bleed protection and hemophilia care for those with all severities of the disease.

CMS in February 2023 announced 3 new models for testing by the Center for Medicare & Medicaid Innovation—all of which “aim to lower the cost of drugs, promote accessibility to life-changing drug therapies, and improve quality of care.”

A review of cases involving Jehovah’s Witnesses found many modalities can be successfully deployed to treat thrombotic thrombocytopenic purpura (TTP).

The findings suggest recombinant ADAMTS-13 may be a useful adjunct therapy to plasma exchange among patients who have thrombotic thrombocytopenic purpura (iTTP).

The patient’s thrombotic thrombocytopenic purpura (TTP)–like symptoms were caused by deficiencies of vitamins B1 and B12.

The impaired reactivity may play a role in organ injury, the authors suggested, among patients who have immune-mediated thrombotic thrombocytopenic purpura (iTTP).

Judicious use of caplacizumab (Cablivi) can reduce the risk of severe bleeding and help manage costs associated with the therapy in patients living with thrombotic thrombocytopenic purpura (TTP).

New data underscore the long-term implications of immune-mediated thrombotic thrombocytopenic purpura (iTTP) and atypical hemolytic-uremic syndrome (aHUS), both rare diseases.

People with the inherited disease can expect to live 52.6 years following birth, the report shows.

A substantial proportion of families of privately insured children with sickle cell anemia pay more than $100 for essential stroke screenings, a high-value service.

Investigators said the Mortality in TTP Score (MITS) was effective at characterizing the risk of death in patients hospitalized with thrombotic thrombocytopenic purpura (TTP).