The recent article by Conley et al.1 on the lwneditary persistence of fetal hemoglobin presents some interesting data which relate to the etiology of thalassemia. Ingram and Stretton2 postulate that beta-tlmlassemia is due to a mutation within or close to the l)eta gene resulting in decreased beta chain production and a compensatory increase in delta chain ( hemoglobin A., ) and gamma chain (he...

By KARL SINGER, BASIL ANGELOPOULOS AND BRACHA RAMOT I T IS N(.)W well established that the erythrocytes of normal newborns contain about 50 to 90 per cent of fetal (type F) hemoglobin, the remainder being supplied by the normal adult (type A) pigment. As a rule, the fetal hemoglobin is rapidly replaced by the adult compound and after 7 to 12 months the embryonic pigment is no longer demonstrabl...

Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in...

hemoglobin f (hbf, α 2 γ 2 ) is a major contributor to the clinical heterogeneity and ameliorating agent observed in patients with the β-globin disorders including β-thalassemia and sickle cell disease (scd). during fetal life, hbf is the major hemoglobin but is largely substituted by adult hemoglobin (hba, α 2 β 2 ) following a globin expression switch after birth. increased γ-globin expressio...

By T. H. J. HUISMAN, A. M. Dozy, B. E. HORTON AND J. B. WILsON T HE EXISTENCE of variants of normal human fetal hemoglobin ( HbFor a2y2 ) has been suggested in different reports in the literature. Variants of fetal hemoglobin with abnormal a-polypeptide chains have been described5 ”5 and some are well characterized.’0 Only one abnormality, namely the electrophoretically fast moving hemoglobin v...

Here we investigated in primary human erythroid tissues a downstream element of the heterochronic let-7 miRNA pathway, the insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1), for its potential to affect the hemoglobin profiles in human erythroblasts. Comparison of adult bone marrow to fetal liver lysates demonstrated developmental silencing in IGF2BP1. Erythroid-specific overexpressi...

Natural deletions of the human β-globin gene cluster lead to specific syndromes characterized by increased production of fetal hemoglobin in adult life and provide a useful model to delineate novel cis-acting elements involved in the developmental control of hemoglobin switching. A hypothesis accounting for these phenotypic features, assumes that silencers located within the Aγ to δ-gene region...

BACKGROUND Cell-free fetal DNA (cffDNA) constitutes approximately 10% of the cell-free DNA in maternal plasma and is a suitable source of fetal genetic material for noninvasive prenatal diagnosis (NIPD). The objective of this study was to determine the feasibility of using digital PCR for NIPD in pregnancies at risk of sickle cell anemia. METHODS Minor-groove binder (MGB) TaqMan probes were d...

T HE HUMAN HEMOGLOBINS consist of two pairs of peptide chains.1’2 Adult hemoglobin ( Hb-A ) has two chains designated a and two chains designated iB; it is thus represented as 2A $2A#{149}Fetal hemoglobin (Hb-F ) has two a chains, which are similar if not identical in structure to those of Hb-A, but a pair of chemically distinct chains, the y chains replacing the $ chains.3’4 Hb-F is thus repre...