Abnormal Production and Structure of Hemoglobin Molecules
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".
Deadline for manuscript submissions: 28 February 2026 | Viewed by 122
Special Issue Editor
Interests: sickle cell disease; pulmonary hypertension; gene polymorphisms; gene sequencing
Special Issue Information
Dear Colleagues,
Hemoglobin, the heterotetramer of red blood cells, is composed of two pairs of similar globin chains attached to iron-containing heme and is a unique molecule in many ways. Firstly, its function, the task of delivering oxygen to the body’s tissues, is fundamental. Secondly, the genes coding for globin chains were among the first human genes to be sequenced. The molecular mechanisms underlying disorders caused by mutations in these genes have been extensively studied and have represented a model for all genetic diseases. Finally, thalassemias and sickle cell disease, the most common inherited globin disorders, also represent the most common inherited monogenic disorders worldwide. More than 2000 disease-causative mutations in globin genes have been reported. These can result in either reduced production of globin chains, leading to disorders known as thalassemias, or alterations to the structure of hemoglobin, leading to a variety of clinical phenotypes, according to the site and biochemical properties of the variant molecule, even though mutations leading to combined quantitative and qualitative defects can also occur. Structural alterations to the globin chains can affect stability, the interaction of globin chains among themselves or with heme, oxygen affinity, or even multiple functions. The aim of this Special Issue is to share knowledge on globin gene variants resulting in thalassemias or other hemoglobinopathies, focusing on molecular mechanisms, genotype and phenotype correlations, and possible targets for therapeutic interventions.
Dr. Maria Dimopoulou
Guest Editor
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Keywords
- hemoglobin
- hemoglobinopathies
- thalassemias
- sickle cell disease
- structural hemoglobin variants
- alpha globin
- beta globin
- globin chain genes
- unstable hemoglobins
- oxygen affinity
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