Augmentation of the fetal hemoglobin (HbF) levels is of therapeutic benefit in patients with sickle cell anemia. Hydroxyurea (HU), by increasing HbF, lowers rates of pain crisis, episodes of acute chest syndrome, and requirements for blood transfusions. For patients with no HbF elevation after HU treatment, augmentation of HbF levels by 5-aza-2*-deoxycytidine (5-aza-CdR, decitabine) could serve...

Keywords: cortical necrosis; rim sign; exercise; vasocon-globin of 14.2 g/dl. PT and PTT were 12 and 35 s respectively. Urinalysis revealed 10 RBC/HPF. striction; renal failure Fractional excretion of sodium was 2.3%. Initial serum biochemistry results were urea 5.16 mmol/l, creatinine 124 mmol/l, creatinine phosphokinase of 150 IU/l,

Key words: adenine phosphoribosyltransferase defi-adequate explanation of her symptoms. On arrival, she was pale and dehydrated. The blood pressure was ciency; crystalluria; 2,8-dihydroxyadeninuria; renal failure 120/60 in the supine position but fell to 100/60 on standing. Physical examination was otherwise unremarkable. Laboratory data included haemo-globin 96 g/l, mean corposcular volume 88,...

Hemoglobin A2 (HbA2; alpha 2 delta 2) is a powerful inhibitor of HbS (alpha 2 beta 2(3)) polymerization. However, HbA2 levels are normally low in sickle cell patients. We show that a major reason for low delta-globin gene expression is the defective CACCC box at -90 in the delta-globin promoter. When the CACCC box defect in delta is corrected, expression of an HS2 delta /Luciferase reporter is ...

An accidental exposure of six workers to ethylene oxide (EO) provided the rationale for a biomonitoring and follow-up study, whose aim was to analyse protein adduct kinetics and examine the differentiation between accidental and environmental exposure, e.g., from tobacco smoke. For this purpose, the decrease in the concentration of the haemoglobin adduct N-2-hydroxyethylvaline (HEV) was followe...

The human beta-globin locus control region (LCR) consists of five erythroid-lineage-specific DNase I-hypersensitive sites (HSs) and is required for activation of the beta-globin locus chromatin domain and globin gene expression. Each DNase I-HS of the LCR consists of a highly conserved core element and flanking sequences. To analyze the functional role of the core elements of the HSs, we delete...

Synthetic genes encoding the human alpha- and beta-globin polypeptides have been expressed from a single operon in Escherichia coli. The alpha- and beta-globin polypeptides associate into soluble tetramers, incorporate heme, and accumulate to greater than 5% of the total cellular protein. Purified recombinant hemoglobin has the correct stoichiometry of alpha- and beta-globin chains and contains...

the restriction enzyme ava ii detects the base change of the intervening sequence ii (ivs ii) which is used as one of the markers of β-globin gene polymorphism. this study was conducted to determine the frequency of the ava ii site on the β-globin gene among normal people and patients with sickle cell syndrome (scs) in iran. dna fragments containing the ivs ii region of the β-globin gene from 3...

Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin...

Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb MedII, 20.5 and 17.4 MedI) two small (thal-2; 4.2 3.7 kb) have been in our country. In addition, different PolyA mutations (PA1: AATAAA>AATAAG PA2: AATAAA>AATGA) on α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), unstable Hb v...