Sickle Cell

With public health efforts and therapeutic advancements the prognosis for this rare condition has progressed, but longer life expectancy has highlighted a multitude of areas that need attention in this population.

The targeted patient population included those with sickle cell disease or beta thalassemia who were considered at high risk for complications, or otherwise ineligible for standard myeloablative hematopoietic stem cell transplant.

Dr. Corinna Schultz talks about her latest data and the growing body of literature showing medical complications that can come with sickle cell trait.

"Using CRISPR/Cas9 you are able to actually fix a disease, that otherwise, was not fixable," Dr. Haydar Frangoul explains the data he presented at ASH 2022.

New developments in gene therapy offer a promising perspective of a future where curing sickle cell disease (SCD) is possible.

Expert Stephanie Guarino, MD, MSHP, shares her plan for the future of pain management specifically for sickle cell disease is based on results from a series of studies.

More research presented by Dr. Stephanie Guarino resulted in a recommended guideline designed for investigating sickle cell disease pain to standardize and enhance the quality of data.

A recent study presented at ASH 2022 examined the safety profiles of different hormonal contraceptives for female sickle cell disease patients at risk of thromboembolism.

"There's no national guidance on how this information should be delivered back to families, which leaves it up to each state's newborn screening program to decide the best route that they see fit," Dr. Corinna Schultz explains.

New phase 2 interim data show rates of the erectile condition were halved after 26 weeks of treatment.

Dr. Stephanie Guarino's novel analysis found a significant relationship between self-efficacy in adults with SCD, and experiences of disease-related stigma.

Spleen size can vary significantly in pediatric patients with sickle cell anemia.

In her mitochondrial work, Dr. Claudia Morris made a novel discovery that wasn't discussed in her presentation at the ASH 2022 Annual Meeting.

The accurate prediction of EF trajectory phenotypes may determine personalization of prognosis and treatment in a pediatric population with acute myeloid leukemia.

New research assessed whether the T117S gene variant could be useful as a marker for predicting sickle cell disease patients' might responses to hydroxyurea treatment.

Every patient in the study was VOC-free at the time of the data cut.

Research into ovarian follicular density in younger female sickle cell disease patients finds no effect from exposure to hydroxyurea.

Compared with infants kept on a standard dose of hydroxyurea, those receiving escalating doses showed greater increases in HbF and HB without significant toxicity.

A study in the Dominican Republic assessed the use of dose escalation of hydroxyurea for children in a single hospital with sickle cell anemia.

Research presented at ASH 2022 examined the ages of onset of ASSC in younger sickle cell disease patients treated with hydroxyurea.

The SPHRE trial in Tanzania show significant benefit for children at high stroke risk in sub-Saharan Africa.

Updated findings from the ongoing clinical trial investigating lovo-cel in sickle cell disease and persistent anemia allude to the possibility that a contributing factor of anemia was identified.

An in vitro assessment showed the promising molecule class should be advanced toward prospective clinical trials.

The observed heterogeneity between BP-CMML cases suggested distinct clinicopathological phenotypes and the investigators integrated clinical metadata with blast immunophenotype with 59 independent features.

A total of 55 metabolites were significantly different between samples from patients with SCD at baseline and healthy control samples.

According to data presented at the ASH 2022 Annual Meeting, this is the first suggestion of a hydroxyurea-related impact on mito activity in patients with sickle cell disease.

Analyses like the Sickle Cell Data Collection (SCDC) have played prominent roles in establishing new SCD clinics, educating health care providers, guiding new research initiatives, and developing state health care policies.

The implementation of 13-valent pneumococcal conjugate vaccine (PCV13) was associated with an important reduction in the incidence of acute chest syndrome in children with sickle cell disease.

There’s still much to be understood about gene therapy and its application to rare diseases like sickle cell, but at the progressive pace it’s moving at, gene therapy is likely to be integrated further into standard practice.

The American College of Physicians (ACP) aimed to inform on the ethical decision making regarding the integration of precision medicine and genetic testing into clinical care.