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Treatment include: 

  • Regular life-long blood transfusions
  • Iron chelation (removing excess iron from blood transfusions)
  • Pain management
  • Bone marrow transplant

These are life-saving treatments, but can come with their own side-effects and serious complications.

Well-treated haemoglobin disorders can still affect wellbeing, playing sport and daily activities, but overall most people have a high quality of life.

Thalassaemia is passed from parent to child in genes. Genes carry information about human characteristics such as eye colour, hair colour and haemoglobin. Thalassaemia is inherited. Thalassaemia is not contagious. Thalassaemia is not transmitted by germs

Sometimes changes occur to genes, resulting in medical conditions. Such changes occur to alpha globin genes in alpha (a) thalassaemia: 

  • A person normally inherits four a globin genes for the production of the alpha globin protein in haemoglobin.
  • A person may have two or three of the normal four alpha globin genes for haemoglobin production. This person is called a carrier of a thalassaemia and is healthy. 
  • Carriers may be at risk of having a child affected with Haemoglobin H disease or Bart’s hydrops fetalis if their partner is also a carrier of certain types of a thalassaemia. 
  • When a person has only one alpha globin gene, they have Haemoglobin H disease and require regular medical care. Individuals with Haemoglobin H disease may experience lifelong anaemia of mild to moderate degree. Occasionally it may be severe. 
  • When a person has no alpha globin genes, they have a severe condition called Bart’s hydrops fetalis. Bart’s hydrops fetalis affects a foetus long before birth, resulting in death during pregnancy or shortly after birth. This is a fatal condition which is dangerous for both the mother and baby during pregnancy.

Thalassaemia is passed from parent to child in genes. Genes carry information about human characteristics such as eye colour, hair colour and haemoglobin. Thalassaemia is inherited. Thalassaemia is not contagious. Thalassaemia is not transmitted by germs.

Sometimes changes occur to genes, resulting in medical conditions. Such changes occur to beta globin genes in beta (b) thalassaemia:

  • A person normally inherits two b globin genes for the production of the beta globin protein in haemoglobin.
  • A person may have an alteration (mutation) in one of their two b globin genes. This person is called a carrier of b thalassaemia and is healthy. Doctors may use the term b thalassaemia minor instead, but it means the same thing.
  • Carriers may be at risk of having a child affected with beta thalassaemia major if their partner is also a carrier of b thalassaemia.
  • When a person has alterations (mutations) in both of their b globin genes, they have a severe condition called b thalassaemia major. b thalassaemia major results in severe anaemia requiring lifelong treatment.

Haemoglobin E (HbE) is an inherited condition caused by the production of an abnormal haemoglobin protein. Haemoglobin is a protein in the blood that carries oxygen around our bodies. HbE is passed from parent to child in genes. Genes carry information about human characteristics such as eye colour, hair colour and haemoglobin. HbE is inherited. HbE is not contagious. HbE is not transmitted by germs. 

Sometimes changes occur to genes, resulting in medical conditions. Such changes occur to beta (b) globin genes: 

  • A person normally inherits two b globin genes for the production of the beta globin protein in haemoglobin. 
  • A person may have the HbE alteration (mutation) in one of their two b globin genes. This person is called a carrier of Haemoglobin E (HbE) and is healthy. Carriers may be at risk of having a child affected with a severe blood condition. 
  • A person may have the HbE alteration (mutation) in both copies of their b globin genes. This person is said to be homozygous for HbE and has no major health problems apart from being slightly anaemic. They may be at risk of having a child affected with a severe blood condition. 
  • When a person is a carrier of the HbE alteration (mutation) and another type of b globin gene alteration (mutation)they may be affected with a severe blood condition that requires treatment. For example: when a person has inherited one copy of the HbE alteration (mutation) from one parent and one copy of a b thalassaemia gene alteration (mutation) from the other parent this results in a severe condition called HbE/b thalassaemi

Sickle cell disease is a blood disorder affecting haemoglobin production. Haemoglobin is a protein in the blood that carries oxygen around our bodies. Sickle cell disease is passed from parent to child in genes. Genes carry information about human characteristics such as eye colour, hair colour and haemoglobin. Sickle cell disease is inherited. Sickle cell disease is not contagious. Sickle cell disease is not transmitted by germs. 

Sometimes changes occur to genes, resulting in medical conditions. Such changes occur to beta (b) globin genes in sickle cell disease: 

  • A person normally inherits two b globin genes for the production of the beta globin protein in haemoglobin. 
  • A person may have the sickle alteration (mutation) in one of their two b globin genes. This person is called a sickle cell carrier and is healthy. 
  • Carriers may be at risk of having a child affected with sickle cell disease if their partner is also a sickle cell carrier. 
  • When a person has the sickle alteration (mutation) in one of their b globin genes, and they have a certain alteration in their other b globin gene they may have a condition called sickle cell disease.
Haemoglobin E: Usually a benign condition, but if inherited with beta thalassaemia or sickle cell, can result in severe condition requiring life-long treatment.

Haemoglobin H disease (HbH): is a form of alpha thalassaemia in which moderately severe anaemia develops due to reduced formation of alpha globin chains. In this condition, as in the other forms of thalassaemia, there is an imbalance of globin chains needed to form haemoglobin.

It is estimated by the World Health Organisation (WHO) that globally, at least 5% of adults are carriers of a genetic haemoglobin condition.

For more information about thalassaemia, sickle cell anaemia and other genetic haemoglobinopathies please go to: http://tascsa.net.au/factsheets/

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