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Haemoglobin Disorders

Haemoglobin disorders or haemoglobinopathies are a group of genetic, hereditary conditions that affect the human blood, and more specifically haemoglobin, an important substance which is 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 (called chains), and which are produced by the α-globin genes and β-globin genes respectively. Hence, the diseases that are caused by haemoglobin abnormality either with regards to its production or its structure are divided into α-chain diseases (or α-globin gene) diseases, such as α-thalassaemia, and β-chain (β-globin gene) diseases, such as β-thalassaemia major and sickle cell disease.

The α-globin and β-globin genes are found on chromosomes 16 and 11 respectively, producing equal amounts of α and β chains respectively, which match together to α2β2 to produce the normal adult haemoglobin (HbA, α2β2).

Haemoglobin disorders, including thalassaemia are an international concern. It is estimated that 7% of the world population is a carrier of a severe haemoglobin disorder and 300-500.000 children are born with a severe haemoglobin disorder each year. Research advances in the clinical care of thalassaemia have managed to transform thalassaemia from a fatal disease of childhood that it once was into a chronic, yet well-managed disease, increasing patients’ survival rate and improving their quality of life.



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
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