Even Distribution of Protective Hemoglobin Prevents Sickle Cell Symptoms
Versiti Blood Research Institute posted on LinkedIn:
”New research from VBRI investigator Phillip Doerfler uncovers new insights into sickle cell disease protection: uniform expression of fetal hemoglobin matters as much as its quantity.
Doerfler and colleagues from St. Jude Children’s Research Hospital, Christian Medical College Vellore, and University of Minnesota used single-cell RNA sequencing to examine blood cells from patients with two genetic variations that increase fetal hemoglobin, a protein that prevents sickling.
Patients whose cells expressed fetal hemoglobin consistently had no sickle cell symptoms. Patients with dramatic variation (some cells carrying high levels, others with very little) suffered pain crises and acute chest syndrome despite similar average hemoglobin percentages.
The difference is immense. Traditional tests measure what percentage of cells express fetal hemoglobin, but cannot detect how much each cell produces. How can we know whether a patient is protected?
The discovery offers crucial guidance for gene therapy approaches that reactivate fetal hemoglobin. Consistency of expression across the cell population may predict clinical benefit better than average levels alone.
Read the article in Blood Journals Portfolio’s Blood.
Advances here.”
Title: Single-cell transcriptomics reveals heterocellular g-globin gene expression in Agdb-thalassemia
Authors: Phillip A Doerfler, Yichao Li, Yu Yao, Ruopeng Feng, Thiyagaraj Mayuranathan, Jingjing Zhang, Emilia Kooienga, David Cullins, Rohith Jesudas, Dillon C Williams, Jane S Hankins, Yong Cheng, David K Wood, Mitchell J. Weiss
Stay updated with Hemostasis Today.
-
Mar 16, 2026, 19:16Maha Othman: Delighted to See Our Article Receive The Eberhard F. Mammen Most Popular Article Award 2026
-
Mar 16, 2026, 19:03Limited Evidence for Anticoagulation Despite High VTE Risk in Sickle Cell Disease – RPTH
-
Mar 16, 2026, 18:59Bartosz Hudzik: Choosing The Right Anticoagulant for Acute Venous Thromboembolism
-
Mar 16, 2026, 18:54Michael Recht Appointed Chief Medical and Scientific Advisor to NBDF’s Pathway to Cures
-
Mar 16, 2026, 18:46David McIntosh: Moving Beyond Doubts and Ensuring the Safety of Plasma Donation
-
Mar 16, 2026, 18:42Ramy Abdelnaby: Exploring Advances in Antithrombotic Therapy for Noncardioembolic Ischemic Stroke
-
Mar 16, 2026, 18:27Christina (Tina) P: Help Advance Research and Support Patients with Antiphospholipid Syndrome
-
Mar 16, 2026, 18:20Ahmed Koriesh: Stroke Prevention in the New 2026 ACC/AHA Dyslipidemia Guideline
-
Mar 16, 2026, 18:13Nameer Ascandar: Outcomes After GI Bleeding in Patients with Rheumatoid Arthritis and AF on Long-Term Oral Anticoagulation