Allelic variance among ABO blood group genotypes in a population from the western region of Saudi Arabia

BACKGROUND: Characterization of the ABO blood group at the phenotype and genotype levels is clinically essential for transfusion, forensics, and population studies. This study elucidated ABO phenotypes and genotypes, and performed an evaluation of their distribution in individuals from the western region of Saudi Arabia. METHODS: One-hundred and seven samples underwent standard serological techniques for ABO blood group phenotype analysis. ABO alleles and genotypes were identified using multiplex polymerase chain reaction, and electrophoretic analysis was performed to evaluate the highly polymorphic ABO locus. RESULTS: A phenotype distribution of 37.4%, 30.8%, 24.3%, and 7.5% was found for blood groups O, A, B, and AB respectively in our study cohort. Genotype analysis identified 10 genotype combinations with the O01/O02 and A102/O02 genotypes being the most frequent with frequencies of 33.6% and 14.95%, respectively. Common genotypes such as A101/A101, A101/A102, A101/B101, B101/B101, and O01/O01 were not detected. Similarly, the rare genotypes, cis-AB01/O02, cis-AB01/O01, and cis-AB01/A102 were not found in our cohort. The most frequently observed allele was O02 (35.98%) followed by the A102 allele (17.76%). Furthermore, our findings are discussed in reference to ABO allele and genotype frequencies found in other ethnic groups. CONCLUSION: The study has a significant implication on the management of blood bank and transfusion services in Saudi Arabian patients.

Autoimmune thrombocytopenia. Is it a different disease or different aspects of a single disease?

To evaluate the association between autoimmune thrombocytopenia with other autoimmune disorders, to show if they are different autoimmune diseases or one disease with different presentations at the same time, and to study the effect of treatment on platelet count in different thyroid condition. In this retrospective study, we included 141 patients with thrombocytopenic purpura. The result of thyroid function test, thyroid autoantibodies, Coombs' reactivity, anti-nuclear antibody, and double-stranded DNA were analyzed. This study was conducted in the Clinical Hematology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia between June 2003 and August 2010. There were 51 [36.2%] patients with laboratory evidence of autoimmune disease, 13 [9.2%] with hypothyroidism, and 6 [4.3%] with hyperthyroidism. In addition, 5 [3.5%] patients showed laboratory evidence of Evan syndrome and 3 [2.1%] patients had isolated positive thyroid antibodies. There was non-significant difference [p=0.61] in platelets count after one month of treatment of patients with different thyroid condition. Immune thrombocytopenia is associated with evidence of different autoimmune disease or a combination of them, which may appear at presentation or during the course of disease giving evidence that they are different manifestations of a single disease. Screening patients for antithyroid antibodies would identify a patient at risk of developing overt thyroid disease. These patients may be further screened with a thyroid-stimulating hormone assay to detect subclinical thyroid disease

Genotype and antiretroviral drug resistance of human immunodeficiency virus-1 in Saudi Arabia

To analyze antiretroviral drug resistance and determine the genotype of human immunodeficiency virus [HIV]-l in Saudi patients by sequencing an amplified region of the viral pol gene. This retrospective study analyzed data from plasma samples submitted for genotypic drug sensitivity monitoring. Samples were analyzed at the Special Infectious Agent Unit, King Fahd Medical Research Center of King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia from August 2004 to June 2009. The Viroseq2.5 kit [Celera/Abbott] was used with ABI Prism 3100 sequencer. All patients were Saudi nationals and were on antiretroviral therapy, some experiencing treatment failure. Based on protease region [PR], genotypes of 63 samples were as follows: C:22, G:21, B:9, CRF02_AG:5, D:3, A:l, F:l, and J:l. Based on reverse transcriptase region [RT], genotypes were as follows: C:23, G:24, B:9, CRF02 AG: 2, D:2, A:l, and F:l. Antiretroviral susceptibility testing results were as follows: 52% of the isolates were susceptible to all 3 major classes of antiretroviral drugs used, 41% had mutations known to confer high level resistance to one or more of the nucleoside analogue reverse transcriptase inhibitors, 16% had mutations known to confer high level resistance to non-nucleoside analogues reverse transcriptase inhibitors, 13% had mutations known to confer high level resistance to one or more of the protease inhibitors [PI]. Most isolates were susceptible to 2 or at least one class of antiretroviral, and only 3% of the isolates had resistance to several members of all 3 classes. Antiretroviral resistance is not uncommon in Saudi patients on antiretroviral therapy

Brain MRI and CT findings in sickle cell disease patients from Western Saudi Arabia

To report the clinical and imaging findings in patients living in the Western Province of the Kingdom of Saudi Arabia where the Benin b-globin gene haplotype is prevalent. Our study population consists of 36 sickle cell disease patients [17 males, 19 females; age range, 1.6-35.6 years; mean age, 19.4 years] with suspected cerebrovascular complications. Major clinical presentations were as follows: stroke symptoms or history of stroke in 13 [36%] patients, severe headache in 16 [44.4%], and seizures in 9 [25%]. All patients underwent brain CT, or MRI study, or both, including diffusion imaging and magnetic resonance angiography. We conducted the study between August 2001 and June 2004 at King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia. Based on MRI, or CT, or both, we found cortical infarction in 30.6% [11/36] of patients. The frontoparietal temporal region was the most commonly involved part and occurred in 4 patients. We diagnosed small vessel disease in 38.9% [14/36] of patients, and involvement was bilateral in 9 patients. Small vessel disease involved deep white mater more than basal ganglia, and the caudate nucleus was the most commonly involved site in basal ganglia. We detected cerebral atrophy in 52.8% [19/36] of patients. An unusual finding was an epidural hematoma associated with skull bone infarctions and scalp edema that we successfully managed conservatively. We observed a widening of the diploic space of the skull in 10 patients. We saw adenoid hypertrophy in a significant number of patients [72% [26 of 36]]. Sickle cell disease cerebrovascular complications are of major concern to the physician. Cerebral atrophy is the most common imaging finding followed by small vessel disease and then by cortical infarction. There was an increased incidence of adenoid hypertrophy