Part 3: Hemoglobinopathies

Katharine Batt, MD, MSc, and Thomas Reske, MD

Dr. Batt is a fellow in Hematology/Oncology, Mount Sinai Hospital New York, NY, and Dr. Reske is a fellow in Hematology/Oncology, Boston University Medical Center, Boston, MA

Question 3

A 31-year-old woman was diagnosed with thalassemia trait (-α/-α) in your office around 1 year ago. At that time, she was referred by the ED for workup of anemia. She immigrated to the United States 3 months prior to her initial visit a year ago. She has Mediterranean ancestry. The patient has a baseline mild microcytic hypochromic anemia and is currently asymptomatic but presents with a request for risk stratification. During your interview, the patient reveals her plans of marriage to a man with Italian ancestry. The fiancé has a familial history of a Mediterranean blood disorder. The woman is 3 weeks' pregnant and is concerned about the possibility of hematologic problems in her child. What is the next step in managing this patient?

  •  Cytogenetic mutation analysis of fiancé's blood
  •  Cytogenetic mutation analysis of patient’s blood
  •  Genetic counseling referral
  •  Hemoglobin electrophoresis of fiancé
  •  Peripheral blood smear and sickling screen test for fiancé

Updated 11/09/2010 • jdw | Copyright ©2014 Turner White Communications