Genetic Counseling

  • A tremendous amount of new knowledge has been gained in the area of genetic origins of diseases recently
  • Therefore, genetic counseling has an important role in the health care delivery system
  • The genetic counselor for Sickle hemoglobinopathies is trained to provide the families and patients with genetic information to understand their risk for disease and to help them make informed decisions
  • Many different forms of sickle hemoglobinopathies exist, with great variation in the effects of these disorders on individuals
  • Genetic counseling services are recommended for parents of an infant with a sickle hemoglobinopathy or trait, individuals with sickle hemoglobinopathies, and for those who carry the abnormal traits, particularly concerning future pregnancies
  • All siblings of infants diagnosed with sickle hemoglobinopathies should be tested and genetic counseling services should be offered to parents
  • Sickle Hemoglobinopathies

  • Hemoglobinopathies are inherited disorders of hemoglobin, which result in production of an abnormal form of hemoglobin S, C or E, or a decreased synthesis of a beta globin chain
  • Sickle cell disease is a term for hemoglobin disorders characterized by the predominate production of hemoglobin S
  • Hgb SS disease is the most severe and the commonest form of the disease
  • There are several other forms of sickling diseases including hemoglobin SC disease and sickle beta thalassemia

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