Haemoglobin Disorders

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.


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.

  1. Guidelines for the Management of Transfusion Dependent Thalassaemia, 3rd Edition (2014) - Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V
  2. Beta-Thalassaemia, Alpha-Thalassaemia and Sickle Cell Disease Educational Community booklet (2007) Eleftheriou A, Angastiniotis M
  3. 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
  4. Guidelines for the Clinical Management of Non-Transfusion Dependent Thalassaemias(2013)- Cappellini M D, Taher A, Musallam K
  5. A Guide for the Haemoglobinopathy Nurse (2013) - Aimiuwu E, Thomas A, Roheemun N, Khairallah T, Nacouzi A N, Georgiou A, Papadopoulou C
  6. Emergency Management of Thalassaemia (2012) - Porter J, Taher A, Mufarij A, Gavalas M
  7. 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
  8. Sickle Cell Disease (2008) Inati-Khoriaty A
  9. Guidelines for the Clinical Management of Thalassaemia 2nd Edition Revised (2008) Cappellini M-D, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A
  10. About Thalassaemia (2007) Eleftheriou A
  11. Beta-Thalassaemia educational booklet (2007) Eleftheriou A, Angastiniotis M
  12. Alpha-Thalassaemia educational booklet (2007) Eleftheriou A, Angastiniotis M
  13. Sickle Cell Disorders educational booklet (2007) Eleftheriou A, Angastiniotis M
  14. Patients’ Rights (2007) Eleftheriou A
  15. A Guide to Establishing a Non-Profit Patient Support Organisation (2007) Eleftheriou A