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BACKGROUND Blood transfusion is the first‐line treatment for patients with thalassemia and many sickle cell patients. However, cases of unregulated blood transfusion are shown to carry a high risk of alloimmunization to red blood cells (RBCs), which can lead to a hemolytic transfusion reaction and be fatal to patients. Screening and identification of alloantibodies are, therefore, essential practice in blood transfusion services. Transfusion of phenotyped blood can minimize these risks to patients. STUDY DESIGN AND METHODS A prospective study was carried out on 1015 donors, and a prospective and retrospective study was carried out on 208 multiple transfused patients with β‐thalassemia and sickle cell anemia. Donor and patient samples were subjected to Rh & K typing, and patient samples were also subjected to screening & identification of RBC antibodies. We aimed to determine the prevalence of RBC antigens in thalassemia and sickle cell patients, as well as blood donors, at King Abdulaziz University Hospital and the frequency of alloimmunization in the selected patients. RESULTS The most commonly detected Rh‐phenotype in donors was R1r (32.02%), followed by R1R1 (23.25%). Only 9.16% of donors were positive for the K antigen. The prevalence of Rh and K blood group antigens was also reported: the highest detected Rh‐phenotype was R1r (40.86%) followed by R1R2 (24.04%) with only (6.25%) positive patients for K antigen. The rate of alloimmunization among sickle cell anemia and thalassemia patients was 39.42% and 35.57%, respectively. The highest specificity rates of the alloantibodies were recorded for anti‐E and anti‐K in both patient groups. CONCLUSION The rate of alloimmunization in transfused patients was high and particularly observed against the Rh and K antigens. This study emphasizes the clinical need for typing patient RBCs prior to transfusion so as to provide phenotyped matched blood units and minimize the risks and associated morbidities of alloimmunization. Keeping a database of phenotyped blood donors is essential for the clinically effective and safe management of transfusion patients.

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Aim and Objectives: This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) as a potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Based on mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATP synthase subunit 6 gene were amplified and sequenced. Results: The sequencing revealed thirty-one mutations at 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotide polymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females. Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects; the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in control samples. Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acute lyphoblastic leukemia (ALL) in Saudi patients based on molecular events.

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Materials and Methods: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. Results: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. Conclusions: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.