Researchers compared the impact of hemophilia on 2 age groups of male patients, 40-49 years and ≥50 years, in terms of comorbidities, health-related quality of life, and health care utilization, as published in the Journal of Blood Medicine. They found that older patients with hemophilia had more mild or moderate disease, but they had reduced…
The predictiveness curve could help determine the risk of vaso-occlusive crisis in children with sickle cell disease (SCD) and allow clinicians to choose the appropriate preventive treatments, according to a new study published in The Turkish Journal of Pediatrics. It is of great importance to have a selection of biomarkers that includes information about the…
A new gene-editing protocol has the potential to treat sickle cell disease (SCD) using corrected hematopoietic stem cells (HSCs) reimplanted into patients, as published in Science. Using the protocol, HSCs from a patient could be harvested, genetically corrected, and then reimplanted into the same patient. During the study, CD34+ HSCs were collected from a patient…
A new diary has been developed for patients with sickle cell disease (SCD) that allows them to record vaso-occlusive crises (VOC)-related pain crises without needing to visit a health care professional. The diary was included in the Evaluation of Longitudinal Pain Study in Sickle Cell Disease study and reported in the European Journal of Haematology,…
Scientists have proposed the eradication of mast cells as a therapeutic strategy to fight against mast cell activation disorders.
Researchers reported the case of a patient who had acute mast cell leukemia preceded by a malignant mediastinal germ cell tumor and published their findings in Cancer Management and Research. Systemic mastocytosis (SM) occurs when mast cells invade the bone marrow as well as other organs in the body. Mast cell leukemia is a subtype…
A novel genotype was identified in a patient with systemic mastocytosis (SM) and published in a case report in Cancer Genetics. “This case provides evidence that MCL [mast cell leukemia] can have wide spectrum of genetic abnormalities as well as accumulation of mutations in various genes including BRAF,” the authors said. The study demonstrated coexistent…
A new case series reports successful kidney transplantation in 3 patients with sickle cell disease (SCD) nephropathy, as published in the Indian Journal of Nephrology. The researchers reported that all 3 patients show good renal function 18, 24, and 48 months after the transplant. “Currently, it has been proven that the survival of SCD patients…
A new gene therapy (BBM-H901) developed for patients with hemophilia B effectively reduced the number of bleeds and the need for repeated factor IX (FIX) enzyme replacement therapy without causing serious adverse events, according to findings published in The Lancet Haematology. BBM-H901 is a novel, molecularly engineered, adeno-associated virus vector gene replacement therapy that targets…
People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases. A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases.…
