Rare Blood

The high health care burden faced by individuals with hemophilia underscores the urgent need for innovative treatments and improved diversity in clinical trials.

The approval of concizumab-mtci (Alhemo) injection marks a significant milestone in managing hemophilia A and B with inhibitors by preventing or reducing bleeding episodes in adults and children 12 years and older.

Key findings from 2024 focused on conditions like vaccine-induced immune thrombotic thrombocytopenia, immune thrombocytopenia, and hemophilia, stressing the importance of early detection and innovative therapies.

A pair of studies presented at the 2024 American Society of Hematology (ASH) Annual Meeting & Exposition highlight continuing gaps in hemophilia care despite the availability of prophylactic therapies.

Innovations in rare blood disorders took center stage at the 2024 American Society of Hematology (ASH) Annual Meeting & Exposition, with key research presented on immune thrombocytopenia, hemophilia, and multiple myeloma.

Promising topline results from a phase 3B study show the efficacy and quality of life (QOL) improvements of iptacopan (Fabhalta) as a twice-daily oral monotherapy for adult patients with paroxysmal nocturnal hemoglobinuria (PNH) who transitioned from anti-C5 therapies.

Experts are now urging the inclusion of sickle cell disease in the global health agenda to address disparities in treatment access.

Despite challenges such as high attrition rates and adverse events, the trial highlights the value of established therapies in improving outcomes, particularly in regions with limited access to chimeric antigen receptor T cells and bispecific antibodies.

Iron deficiency represents more than a medical condition; it is a reflection of persistent health disparities, according to an editorial published in The Lancet Haematology.

The future of hemophilia care lies not only in technological advancements but also in the pursuit of health equity, ensuring that all patients have access to effective, affordable treatments.

Although polycythemia vera management remains focused on reducing the risk of thrombotic events, there is growing recognition of the need to address the persistent decline in quality of life experienced by many patients.

Patients with transfusion-dependent β-thalassemia experienced 14.8 hospitalizations annually, according to the findings.

The machine learning model shows promise in detecting paroxysmal nocturnal hemoglobinuria (PNH) by assessing electronic health records (EHR) data, potentially transforming the diagnostic landscape for rare diseases.

Cost avoidance varied by clinical setting, with the largest savings occurring in hematology clinics ($73,773), followed by rheumatology ($45,330) and pediatric gastrointestinal/irritable bowel syndrome ($16,519).

Etonogestrel-releasing contraceptive implants in women with sickle cell disease significantly reduced pain intensity and frequency of pain crises over 12 months, with no adverse changes in metabolic or liver function markers.

Despite advancements in umbilical cord blood transplants, social determinants of health, such as poverty and public insurance, continue to impact outcomes, underscoring the need for equitable access to lifesaving treatments.

Health plans would see savings faster if they switched to etranacogene dezaparvovec sooner, the investigators found.

Patients with sickle cell anemia (SCA) and persistent albuminuria (PA) exhibited significantly higher levels of urinary angiotensinogen (AGT).

Genetic variability and sex-specific differences may play a role in sickle cell disease (SCD)-related pain; however, more research is needed.

A new report based on patient focus groups suggests many clinicians can do more to help patients with sickle cell disease (SCD) feel heard and understood.

Findings from a post hoc analysis of 3 clinical trials support the switching to or initiation of pegcetacoplan to manage fatigue for patients with paroxysmal nocturnal hemoglobinuria (PNH) that is accompanied by mild to moderate anemia.

Analysis of the phase 3 explorer7 (NCT04083781) study indicates a preference for concizumab prophylaxis over no prophylaxis in patients with hemophilia A or B with inhibitors.

Ravulizumab therapy may enable patients with paroxysmal nocturnal hemoglobinuria (PNH) to comparable achieve activity levels and patient-reported outcomes to the US general population.

A systematic analysis that reviewed screening for sickle cell retinopathy in patients with sickle cell disease (SCD) underscores the importance of advanced imaging measures and further research on screening implementation methods.