We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...

Hemoglobin variants in which a frameshift results in chain elongation are unusual. Hemoglobin Pakse (Hb Pakse) is an unstable hemoglobin with abnormal elongation, first described in Indochina. An alpha2-globin gene termination codon mutation, TAA -->TAT or Term -->Tyr, has been described in the pathogenesis of Hb Pakse. This abnormality causes a frameshift that elongates the alpha chain amino a...

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...

BACKGROUND It is customary in Southeast Asia to treat pregnant anemic women with iron supplements, but anemia in this region may be complicated by thalassemia and hemoglobinopathies, which lead to an ineffective response. OBJECTIVE The aim was to determine whether routine iron supplementation during pregnancy in this area, which has a high prevalence of thalassemia and hemoglobinopathies, is ...

background: xmn-1 polymorphism of y g globin gene ( hbg2 ) is a prominent quantitative trait loci (qtl) in β-thalassemia intermediate (β-ti). in current study, we evaluated frequency of xmn-1 polymorphism and its association with β-globin gene ( hbb ) alleles and hb f level in β-ti patients in sistan and balouchestan province, south-east of iran. methods: 45 β-ti patients were enrolled. hbb gen...

ickle cell anemia (SCA) is characterized by a single homozyous mutation (A→T) in the sixth codon of the -globin gene hat results in hemoglobin S (Hb S), in which a glutamic cid residue is substituted by valine in the sixth position f the -globin chain (HBB; glu(E)6val(A); GAG-GTG; rs334).1 his change leads to a wide variety of symptoms, including hronic intravascular hemolysis, increased cell-f...

Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemoglobin subtyping is unable to detect this highly unstable α-haemoglobin variant. This study identifie...

The hydrogen bond (H-bond) energies are evaluated for 18 molecular crystals with 28 moderate and strong O-H···O bonds using the approaches based on the electron density properties, which are derived from the B3LYP/6-311G** calculations with periodic boundary conditions. The approaches considered explore linear relationships between the local electronic kinetic G(b) and potential V(b) densities ...

background: many efforts have been undertaken until now to find an alternative approach to packed red cell tranfusion in major β-thalassemia. augmentation of fetal hemoglobin by hydroxyurea has proved to be less effective in this condition as compared to sickle cell anemia, probably due to molecular heterogeneity of the former disease. hydroxyurea efficacy and its relation to xmn1 polymorphism ...

Expired nitric oxide (NO(e)) varies with hemodynamic or ventilatory perturbations, possibly due to shear stress- or stretch-stimulated NO production. Since hemoglobin (Hb) binds NO, NO(e) changes may reflect changes in blood volume and flow. To determine the role of blood and mechanical forces, we measured NO(e) in anesthetized rabbits, as well as rabbit lungs perfused with buffer, red blood ce...