Rare Blood

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.

A study from the American Society of Hematology (ASH) Research Network reports positive antibody response and tolerability after mRNA vaccination in people with sickle cell disease.

The phase 3, international, open-label, single-group XTEND-Kids study concluded that children with severe hemophilia A younger than 12 years benefited from treatment with efanesoctocog alfa prophylaxis.

The phase 3 PEGASUS trial found that patients with paroxysmal nocturnal hemoglobinuria (PNH) may still experience anemia following recommended therapies, underscoring the need for further research.

A cross-sectional study found that static pain measures could be useful for predicting fatigue severity in patients with sickle cell disease (SCD).

A retrospective database analysis demonstrated the high clinical burden experienced by patients with severe deficiencies of ADAMTS13 and thrombotic thrombocytopenic purpura (TTP)–related diagnoses.

An investigation into the burden of dilated perivascular spaces (dPVS) in children with sickle cell disease (SCD) confirmed that those with SCD experience more severe manifestations of dPVS compared with the general population.

For patients with paroxysmal nocturnal hemoglobinuria (PNH), crovalimab has emerged as an additional treatment option with a similar safety and efficacy profile to eculizumab,

Results from a cross-sectional study revealed the gaps in knowledge related to fertility risks among patients with sickle cell disease (SCD), as well as shed light on patient perspectives on fertility treatments.

Sickle cell trait (SCT) and pregnancy each exacerbate the symptoms of COVID-19. As a result, pregnant individuals with SCT may have a higher risk of COVID-19 infection.

June 19 is marked as World Sickle Cell Awareness Day, granting the opportunity to reflect on the current state of treatment, access, equity, and more that impacts patients living with sickle cell disease.