Regional
Advancing Care for Hemoglobinopathy Patients Using Genotyping
Maha Badawi
King Abdulaziz University, Jeddah, Saudi Arabia,
Tarek Metwally
King Abdulaziz University Hospital Jeddah, Saudi Arabia
Maiman Bayuomi
King Abdulaziz University Hospital Jeddah, Saudi Arabia
Seraj Alweail
King Abdulaziz University Hospital Jeddah, Saudi Arabia
Shahad AlJuhani
King Abdulaziz University Hospital Jeddah, Saudi Arabia
Alloimmunization is a common complication in transfusion-dependent patients. Studies report prevalence rates ranging from 5-75% among individuals with hemoglobinopathies1, with a rate of 18.2% in Saudi Arabia according to a recent meta-analysis2. This immune response can complicate future transfusions, delay treatment, and increase the risk of delayed hemolytic transfusion reactions and hyperhemolysis.
Diagnostic Complexities
One of the major challenges in managing alloimmunization is antibody evanescence—the phenomenon where previously formed antibodies become undetectable over time. This is especially prevalent in SCD patients, with up to 80% of alloimmunized individuals experiencing antibody disappearance. Such evanescence complicates antibody screening and identification, potentially leading to mismatched transfusions and adverse outcomes.
Genotyping: A Game-Changer
To address these limitations, KAUH signed an agreement with the MOH Jeddah Regional Blood Bank under the First Health Cluster to implement genotyping. Genotyping provides a more comprehensive and stable profile of RBC antigens, unaffected by recent transfusions or antigen masking.
So far, genotyping has been completed for 48 patients. Each result was reviewed by a Blood Transfusion Services (BTS) physician and cross-referenced with known patient data. This process enabled the provision of matched units, significantly reducing the risk of alloimmunization and transfusion complications.
Genotyping revealed several cases of weak or partial antigen expression, including antigens c, e, and Fyb. One particularly interesting case involved a discrepancy in E antigen status: the patient tested positive via phenotyping but negative through genotyping. Such findings highlight the limitations of traditional phenotyping and the value of molecular methods.
The Road Ahead
Looking ahead, KAUH aims to expand genotyping to all patients with hemoglobinopathies. It would be ideal to establish national access to patient data—including phenotyping, genotyping, and antibody records. Such integration would facilitate safer transfusions across institutions and regions.
Moreover, the hospital is exploring the use of artificial intelligence (AI) to enhance blood matching. AI algorithms could analyze complex antigen profiles and historical transfusion data to recommend optimal donor matches, further personalizing care and minimizing risk. Acknowledging the Team
The success of this initiative is a testament to the dedication of the multidisciplinary team at KAUH and the regional Blood Bank. Special appreciation goes to Dr. Nada Bin Zagr from Jeddah Regional Blood Bank, along with KAUH hematology lab and BTS staff and physicians who have championed this transformation.
References
1. Linder GE, Chou ST. Red cell transfusion and alloimmunization in sickle cell disease. Haematologica. 2021;106:1805-1815. 2. Bawazir WM. A Meta Analysis of RBC Alloimmunization in Transfused Sickle Cell and Thalassemia Patients in Saudi Arabia. Clinical Laboratory. 2025;71:571-581.
