GATA3 rs3824662 gene polymorphism as possible risk factor in a cohort of Egyptian patients with pediatric acute lymphoblastic leukemia and its prognostic impact.

To investigate the possible role of GATA3 rs3824662 polymorphism as risk factor for the development of acute lymphoblastic leukemia (ALL) in a cohort of Egyptian children and to evaluate its prognostic role. Typing of GATA3 rs3824662 polymorphism was done using real-time PCR for 116 patients with ALL and 273 healthy controls. The A allele and AA genotype were significantly higher in ALL patients (p = .

Precipitating factors and targeted therapies in combating the perils of sickle cell disease--- A special nutritional consideration.

Nutritional research in sickle cell disease has been the focus in recent times owing to not only specific nutritional deficiencies, but also the improvements associated with less painful episodes. Though hydroxyurea remains the drug of choice, certain adverse health effects on long term supplementation makes room for researches of different compounds. Macro and micro nutrient deficiencies, along with vitamins, play an important role in not only meeting the calorific needs, but also reducing clinical complications and growth abnormalities.

Clinical biomarkers in sickle cell disease.

Sickle cell disease (SCD) is a hereditary blood disorder caused by a single gene. Various blood and urine biomarkers have been identified in SCD which are associated with laboratory and medical history. Biomarkers have been proven helpful in identifying different interconnected disease-causing mechanisms of SCD, including hypercoagulability, hemolysis, inflammation, oxidative stress, vasculopathy, reperfusion injury and reduced vasodilatory responses in endothelium, to name just a few.

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ chain variants and two δ-thalassemia (δ-thal) mutations were characterized in a study of 127 alleles in patients with either a low Hb A2 value or a split Hb A2 peak on high performance liquid chromatography (HPLC). The most common δ chain variant was Hb [Formula: see text] (or Hb B2) [δ16(A13)Gly → Arg; HBD: c.

The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position.

Objective: To investigate the predictive accuracy of using a combination of the high pressure liquid chromatography (HPLC) retention time and the relative isoelectric focusing (IEF) position to diagnose rare hemoglobin variants.

Methods: A selected group of 40 patients with a rare beta-chain variant were assigned a presumed diagnosis following HPLC and IEF screening and then the variant identified in each case by DNA analysis. The study was conducted at the National Hemoglobinopathy Reference Laboratory, Oxford, United Kingdom, from August 2008 to October 2008.

Molecular immunoglobulin/T-cell receptor clonality diagnosis by gene scan in lymphoproliferative disorders.

There remains significant controversy over the techniques used for clonal diagnosis of lymphoproliferative disorders because of questions regarding the sensitivity, specificity and throughput. This has stimulated us to explore the use of gene scan to determine clonality of Immunoglobulin (Ig)/T-cell receptor (TCR) (gamma gene rearrangement in a variety of morphologically, cytochemically, pathologically and immunophenotypically defined precursor B/T-ALL (12 patients), 5 patients with NHL, 10 patients with CLL and a group of reactive lymphocytosis as a reference group (10 subjects). Polymerase chain reaction (PCR) was done for IgH gene (FR3a, FR2b, LJH and JH primers) and for TCR gamma gene and the malignant clone was identified using gene scan (GS) analysis.