Many diseases in humans are caused by abnormalities in the blood and these are categorized according to the component of the blood which is affected: white cell diseases, platelet diseases and red cell diseases.
Haemoglobin disorders or haemoglobinopathies are a group of conditions affecting human blood – more specifically an important substance or protein called haemoglobin contained in the red blood cells, hence the name haemoglobin disorders or haemoglobinopathies.
Haemoglobin is a protein that consists of the alpha (α) and beta (β) parts or chains and which are in turn produced by the α-globin genes and β-globin genes respectively. Hence the diseases caused by haemoglobin abnormality either with regards to its production or its structure are divided into α-chain diseases (or α-globin gene) diseases and β-chain (β-globin gene) diseases. These genes are found on chromosomes 16 and 11 respectively.
THE MAJOR HAEMOGLOBIN DISORDERS ARE:
Note: The information contained in this section is taken from TIF's publications, notably:
TIF’s publications are an ongoing project, as it concerns the compilation of new publications but also the translation of existing ones in more languages.
- Guidelines for the Management of Transfusion Dependent Thalassaemia, 3rd Edition (2014) - Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V
- Beta-Thalassaemia, Alpha-Thalassaemia and Sickle Cell Disease Educational Community booklet (2007) Eleftheriou A, Angastiniotis M
- Prevention of Thalassaemias and other Haemoglobin Disorders, Vol 1, 2nd Edition (2013) - Old J, Galanello R, Eleftheriou A, Traeger-Synodinou J, Petrou M, Angastiniotis M
- Guidelines for the Clinical Management of Non-Transfusion Dependent Thalassaemias(2013)- Cappellini M D, Taher A, Musallam K
- A Guide for the Haemoglobinopathy Nurse (2013) - Aimiuwu E, Thomas A, Roheemun N, Khairallah T, Nacouzi A N, Georgiou A, Papadopoulou C
- Emergency Management of Thalassaemia (2012) - Porter J, Taher A, Mufarij A, Gavalas M
- Prevention of Thalassaemias and Other Haemoglobin Disorders, Vol. 2: Laboratory Protocols (2012)- Old J, Harteveld C L, Traeger-Synodinos J, Petrou M, Angastiniotis M, Galanello R
- Sickle Cell Disease (2008) Inati-Khoriaty A
- Guidelines for the Clinical Management of Thalassaemia 2nd Edition Revised (2008) Cappellini M-D, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A
- About Thalassaemia (2007) Eleftheriou A
- Beta-Thalassaemia educational booklet (2007) Eleftheriou A, Angastiniotis M
- Alpha-Thalassaemia educational booklet (2007) Eleftheriou A, Angastiniotis M
- Sickle Cell Disorders educational booklet (2007) Eleftheriou A, Angastiniotis M
- Patients’ Rights (2007) Eleftheriou A
- A Guide to Establishing a Non-Profit Patient Support Organisation (2007) Eleftheriou A