Haematological Disorders and Genetic Haemochromatosis

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


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 ...

Get Genetics for Nurses now with the O’Reilly learning platform.

O’Reilly members experience live online training, plus books, videos, and digital content from nearly 200 publishers.