Genetics of Blood Disorders Genetic blood disorders constitute a significant
public health issue in both developed and developing countries. WHO estimates
that 5% of the world's population are carriers of a recessive blood disorder, or
haemoglobinopathy. This module will investigate the genetic basis of common
haemoglobinopathies such as Haemochromatosis, Thalassaemia, Thrombophilia,
Sickle Cell Anaemia and Haemophilia. It will look at carrier screening options
and the ethical issues it raises.
Module Units
Introductory genetics
Taking a family history
Common haemoglobinopathies
Genetic carrier screening
Ethical issues in carrier screening
Learning Objectives
At the end of this module participants will:
Understand the basic genetic mechanisms, clinical picture and inheritance
patterns of common haemoglobinopathies.
Have skills in family history taking.
Be able to identify patients that fulfil the indicators for genetic carrier
screening for the conditions covered.
Be able to discuss the testing options available to at-risk individuals.
Be able to discuss benefits and risks of carrier screening with patients.
Have an increased awareness of confidentiality, ethical and legal issues in
genetics.
