Genetic position of Bahrain natives among wider Middle East populations according to Alu insertion polymorphisms.

Background: The genetic differentiation of Bahrain natives is unclear because of the absence of adequate genetic studies.

Aim: Eight Alu insertion polymorphisms have been analysed in Bahrainis and southern Iranians to examine the origins of Bahrainis and to determine their genetic position among wider Middle East populations.

Subjects And Methods: Two representative samples of 97 Bahrainis and 65 southern Iranians have been determined.

The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is a monogenic autosomal dominant disorder caused by defects in LDLR. Few reports describe FH mutations among Arabs. We describe a mutation in LDLR of two unrelated Arab families.

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

The precise transcriptional regulation of gene expression is essential for vertebrate development, but the role of posttranscriptional regulatory mechanisms is less clear. Cytoplasmic RNA granules (RGs) function in the posttranscriptional control of gene expression, but the extent of RG involvement in organogenesis is unknown. We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis.

Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait.

Introduction: Patients with thalassemia major often present with a hypercoagulable state, the pathogenesis of which is still not understood.

Materials And Methods: This study evaluates the risk factors for hypercoagulability in 50 beta-thalassemia major patients and 50 healthy controls. Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed.

Germline mutation in the von Hippel-Lindau gene in Kuwait: a clinical and molecular study.

Objectives: We aimed to investigate germline mutation in another extended von Hippel-Lindau (VHL) family in Kuwait with Arabian and Persian genetic admixture.

Materials And Method: Polymerase chain reaction (PCR) followed by single-strand conformation polymorphism (SSCP) and direct sequencing of the PCR amplicons, that showed clear band shift, were used to screen the VHL gene in the index patient, 20 members of her family and 55 healthy controls of matching ethnicity.

Result: The clinical history of all patients revealed multiple hemangioblastomas in various organs without pheochromocytomas.

Effects of cigarette smoking on hematological parameters and von Willebrand factor functional activity levels in asymptomatic male and female Arab smokers.

Objectives: This study aimed at determining the effects of cigarette smoking based on gender, on several hematological parameters and von Willebrand factor protein in the asymptomatic Arab population of Kuwait.

Subjects And Methods: Ninety-two subjects participated in this study: 55 males (31 smokers and 24 nonsmokers) and 37 females (18 smokers and 19 nonsmokers). Complete blood count results were obtained using Beckman Coulter Hematology Analyzer.

Validity assessment of nine discriminant functions used for the differentiation between iron deficiency anemia and thalassemia minor.

Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide. Because of similar red blood cell count parameters and blood picture, it was imperative to develop other measures that would differentially and correctly diagnose these two anemias. Several mathematical formulas and simple RBC indices have been introduced as simple, fast and inexpensive means of providing differential diagnosis for IDA and thalassemia minor.

Comparison of erythrocyte sedimentation rate measurement by the automated SEDIsystem and conventional Westergren method using the Bland and Altman statistical method.

Objectives: To compare the performance of SEDIsystem(TM), a fully automated analyzer for the measurement of the erythrocyte sedimentation rate (ESR), with the manual Westergren method.

Materials And Methods: Both methods were applied to 150 randomly selected subjects. The linear regression and Bland and Altman data analysis methods were used to measure the agreement between the automated and manual methods.