Fetal hemoglobin is a potent genetic modifier of the severity of β-thalassemia and sickle cell anemia. We utilized an in vitro culture model of human erythropoiesis in which late stage erythroblasts are derived directly from human CD34 + hematopoietic cells to evaluate HbF production. This system recapitulates expression of globin genes according to the developmental stage of the originating ce...

When the clinical manifestations of 272 patients with sickle cell anemia are compared with their level of fetal hemoglobin (HbF), the results suggest that there may be a threshold above which HbF is effective in ameliorating the morbidity of this disease. The age of entry of these SS patients into the study ranged from birth to 56 yr; the average length of follow-up was 11 yr for a total of 3,0...

Pharmacologic stimulation of fetal hemoglobin (HbF) expression may be a promising approach for the treatment of beta-thalassemia. In this study, we have investigated the HbF-inducing activity and molecular mechanisms of specific histone deacetylase (HDAC) inhibitors in human K562 erythroleukemia cells. Apicidin was the most potent agent compared with other HDAC inhibitors (trichostatin A, MS-27...

Sickle cell disease (SCD) results from a point mutation in the β-globin gene forming hemoglobin S (HbS), which polymerizes in deoxygenated erythrocytes, triggering recurrent painful vaso-occlusive crises and chronic hemolytic anemia. Reactivation of fetal Hb (HbF) expression ameliorates these symptoms of SCD. Nuclear factor (erythroid derived-2)-like 2 (Nrf2) is a transcription factor that trig...

The Malarial parasite resides in the host RBC during its erythrocytic cycle. Plasmodium meets its entire nutritional requirement from RBC. It scavenges the hemoglobin of RBCs to meet its amino acid requirement. The host hemoglobin is made of different chains and it is dependent on age. Hemoglobin F (HbF), which has two-alpha and two gamma chain persists in children upto six years, and hemoglobi...

Objective. Fetal hemoglobin (HbF) levels in the hemolysates obtained from infants who died from sudden infant death syndrome (SIDS) are reported to be markedly increased compared with controls. This finding could have been explained by increased HbF synthesis caused by episodes of hypoxemia in the SIDS infants. A prospective study in a group of infants being monitored at home after an apparent ...

AIMS Fetal hemoglobin (HbF) is an established serological indicator of cancer. However, its distribution in tumour tissues is rarely investigated. Therefore, HbF was studied immunohistologically in different cancers characterised by high blood HbF concentrations. METHODS Anti-HbF was immunoaffinity purified and used to study HbF immunohistochemically in the following cancers: germ cell tumour...

Background and Objectives. We report on two families in which the β0-thalassemia mutation IVS2+1G→A occurs either in the homozygous or compound heterozygous condition with other β-thalassemia determinants. In the first family the proband, homozygous for the IVS2+1 determinant, is asymptomatic and was detected by chance during a screening program for β-thalassemia. In the second family, the prob...

Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation model to evaluate hematopoietic stem cell (HSC)-based gene editing strategies aimed at reactivating HbF. We first characterized the transient ...

The N-terminal 18-amino acid sequence of the beta-chain of hemoglobin, as far as the end of the A helix, has been replaced by the corresponding sequence of the gamma-chain of fetal hemoglobin with the remaining sequence of the beta-chain retained (helices B through H). The gamma-beta-chain had the correct mass, and its entire sequence was established by mass spectrometric analysis of its trypti...