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 ...

β Thalassemia Trait(BTT) produces mild ineffective erythropoiesis and associated increased iron absorption from the gut. Based on these reasons it had been suggested that BTT confers an advantage in maintaining iron balance, in which case prevalence of iron deficiency should be lower in those with the trait. This Study was carried out to determine the frequency of coexistence of iron deficiency...

Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the experimental design used in a malaria association study in Tanzania, shows a high...

A followup study of 2-17 yr was performed on 44 pancytopenic patients with benzene exposure. They had been subjected to high concentrations of benzene (150-650 ppm) in adhesives for 4 mo to 15 yr. The benzene content of the adhesives varied between 9% and 88%, (average 50%). Complete remission was seen in 23 patients and fatal outcome due to complications of pancytopenia was observed in 14 panc...

In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l. Sanger sequencing combined with reverse transcription‑quantitative polymerase...

background: hb a2 is elevated in subjects with beta thalassemia minor but small percent of carriers have normal hb a2 with elevated levels of hbf (2-10%). this type of thalassemia is called delta beta thalassemia, and can be missed in pre-marriage hematologic consults or screening which leads to increased risk of child birth with beta thalassemia major. materials and methods: in this prospectiv...

The paper presents a part of the scientific activity of GEOECOMAR team during the IAEA project RER 2/003 Marine Environmental Assessment of the Black Sea Region, on board of R/V “Prof. Vodyanitskyi” and in laboratories. The Black Sea presents different sedimentological and geochemical characteristics in the eastern and western sub-basins. Whole sections of the Upper and Middle Holocene sediment...