The Many Potential Ocular Manifestations in Patients With Sickle Cell Disease
Proliferative sickle retinopathy is the main cause of vision loss in patients with SCD, but the disease can affect virtually any part of the eye.
Junction: Hematology
Sexual Dysfunction Is Significant, but Underrecognized, Among Women With SCD
A new study found that sickle cell disease (SCD) places a significant, albeit underrecognized, burden on women’s sexual lives. “Due to the sensitivity of discussing sexual dysfunction, women with SCD may not complain about this and the diagnosis is unlikely to be made,” Adesoye and Akhigbe wrote in The Journal of Sexual Medicine. Therefore, they…
Comorbidities Common in Patients With Advanced SM Prior to Diagnosis
Researchers reported that patients with newly diagnosed advanced systemic mastocytosis (SM) had high rates of comorbidities and healthcare service utilization prior to a confirmed diagnosis, according to a study published in Clinical Lymphoma, Myeloma & Leukemia. Advanced SM is a rare disorder caused by the KIT D816V mutation. It encompasses aggressive SM, mast cell leukemia,…
New Study Finds Higher Systolic Blood Pressure in Children With SCD
Children and adolescents with sickle cell disease (SCD) have higher systolic blood pressure (BP) values than the general pediatric population, according to a new study published in BMC Pediatrics. This study contradicts the current belief that children with SCD have lower BP levels. “This is an important step for recognizing abnormal BP as a risk…
Advanced SM Initially Presents With a Wide Range of Symptoms, Complicating Diagnosis
A new study has characterized the symptomatology of patients with advanced systemic mastocytosis (SM) as reported by oncologists at the first patient visit. The study, published in Clinical Lymphoma, Myeloma & Leukemia, found a wide range of symptoms, comorbid conditions, and diagnostic strategies for these patients. “Although driven by KIT D816V in 95% of cases,…
Rondoraptivon Pegol Increases Factor VIII Half-Life and Levels in Hemophilia A Patients
A new study has found that the von Willebrand factor (VWF)-binding aptamer rondoraptivon pegol increased the half-life of substituted factor VIII (FVIII) as well as endogenous FVIII levels in patients with hemophilia A. The study, published in Blood, also found that the patients tolerated the subcutaneous treatment well. “Recently, rondoraptivon pegol (previously BT200), a VWF-binding…
New Approach Could Improve Mental Health Screening in Hemophilia
A team from St. Jude Children’s Research Hospital in Memphis, Tennessee, and Vanderbilt University Medical Center in Nashville, Tennessee, have developed an approach to help identify children with hemophilia at risk for attention-deficit/hyperactivity disorder (ADHD). “A reliable method of screening that leads to early identification of [inattention (IN)]/[hyperactivity/impulsivity (HI)] can facilitate early intervention in the…
Avapritinib Shows Potential for Treating KIT-Negative Advanced SM
A 53-year-old male diagnosed with KIT-negative advanced systemic mastocytosis (SM) had his tryptase level decreased and his symptoms relieved after starting treatment with avapritinib (Ayvakit®). “In our patient, the starting dose was 200 mg daily, which led to a rapid decline of tryptase level, with symptomatic improvement within months at a reduced dose of 100…
Droplet Digital PCR Might Be a Useful Alternative for Detecting SM
A new study assessed droplet digital polymerase chain reaction (ddPCR) as an alternative diagnostic tool to allele-specific oligonucleotide real-time quantitative PCR (ASO-qPCR) to detect the D816V KIT mutation in patients with suspected systemic mastocytosis (SM). The study, published in Clinical Lymphoma, Myeloma & Leukemia, found that ddPCR could reliably detect the mutation in a noninvasive…
Cancer Diagnosis in Hemophilia Trial Likely Unrelated to Experimental Therapy
BioMarin will proceed with phase 3 study of the investigational gene therapy BMN 270 (valoctocogene roxaparvovec) for the treatment of adults with severe hemophilia A despite a participant being diagnosed with B-cell acute lymphoblastic leukemia (B-ALL). The diagnosis was confirmed approximately 3 years after the participant received the dose of BMN 270. Early assessment of…
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