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Haematological Disorders and Genetic Haemochromatosis

CHAPTER OBJECTIVES
  • Hemoglobinopathies
  • Sickle Cell Disease
  • Thalassemias
  • Genetic Hemochromatosis (GH)

Haemoglobinopathies

A molecular disease is one in which primary disease causing event is a mutation, either inherited or acquired. This chapter outlines basic genetic and biochemical mechanisms underlying genetic disease, using disorders of haemoglobin—Haemoglobinopathies as examples.

 

Haemoglobin An oxygen-carrying pigment of the red blood cells which gives them the red colour and transports oxygen from lungs to tissues.

Disorders of human haemoglobins, called haemoglobinopathies occupy a unique position in medical genetics for several reasons. They are easily the most common ...

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