Fetal hemoglobin in sickle cell anemia

I Akinsheye, A Alsultan, N Solovieff… - Blood, The Journal …, 2011 - ashpublications.org
Fetal hemoglobin (HbF) is the major genetic modulator of the hematologic and clinical
features of sickle cell disease, an effect mediated by its exclusion from the sickle hemoglobin …

Sickle cell trait diagnosis: clinical and social implications

RP Naik, C Haywood Jr - Hematology 2014, the American …, 2015 - ashpublications.org
The sickle hemoglobin (HbS) point mutation has independently undergone evolutionary
selection at least five times in the world because of its overwhelming malarial protective …

[图书][B] The thalassaemia syndromes

DJ Weatherall, JB Clegg - 2008 - books.google.com
In the new edition of this successful and authoritative book, the thalassaemias are reviewed
in detail with respect to their clinical features, cellular pathology, molecular genetics …

Genetic etiologies for phenotypic diversity in sickle cell anemia

MH Steinberg - The Scientific World Journal, 2009 - Wiley Online Library
The clinical course of patients with sickle cell anemia, a Mendelian trait, is characteristically
highly variable. HbF concentration and the presence of a thalassemia are established …

Genetic modifiers of the β‐haemoglobinopathies

SL Thein - British journal of haematology, 2008 - Wiley Online Library
Identification of the molecular basis of the β‐thalassaemias and sickle cell disease (SCD)
has made it clear that patients with the same β‐globin genotypes can have very variable …

Pathophysiology of sickle cell disease: role of cellular and genetic modifiers

MH Steinberg, GP Rodgers - Seminars in hematology, 2001 - Elsevier
Sickle hemoglobin (HbS), caused by a point mutation in the β-globin gene of hemoglobin,
polymerizes when deoxygenated. The pathophysiology of sickle cell disease results from …

A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease

GD Pule, S Mowla, N Novitzky… - Expert review of …, 2015 - Taylor & Francis
Aim: To report on molecular mechanisms of fetal hemoglobin (HbF) induction by
hydroxyurea (HU) for the treatment of sickle cell disease. Study Design: Systematic review …

6 Pathophysiology of sickle cell disease

MH Steinberg - Baillière's clinical haematology, 1998 - Elsevier
Sickle cell disease is caused by a mutation in the β-globin chain of the haemoglobin
molecule. Sickle haemoglobin, the result of this mutation, has the singular property of …

Molecular therapies in β‐thalassaemia

L Quek, SL Thein - British journal of haematology, 2007 - Wiley Online Library
The β‐thalassaemias have a major global impact on health and mortality. Allogeneic
haemopoietic stem cell transplantation is the only approach that may lead to a cure but this …

Disorders of the synthesis of human fetal hemoglobin

L Manca, B Masala - IUBMB life, 2008 - Wiley Online Library
Fetal hemoglobin (HbF), the predominant hemoglobin in the fetus, is a mixture of two
molecular species (α2Gγ2 and α2Aγ2) that differ only at position 136 reflecting the products …