Parents’ genetic defect permanently impairs child

The patient, a woman of Chinese descent, became pregnant and was transferred to the care of an obstetrician/gynecologist. At approximately six weeks of pregnancy, the OB/GYN performed a CBC which showed clear signs of a probable Thalassemia trait carrier (low hemoglobin, high red blood cell count and low mean corpuscular volume). No further blood testing was performed nor was any recommendation made to have her husband, also of Chinese descent, tested for the Thalassemia trait. If both parents are carriers, the chances of a newborn suffering from full-blown Thalassemia are greatly increased.

The patient had also told the OB/GYN that her twin sister had a complete work-up for Thalassemia when she was pregnant and was found to be a carrier. The patient contended that the OB/GYN assured her that she had nothing to worry about and that there was no further need to evaluate her husband.

The patient’s son was born on May 16, 2005, and shortly thereafter was diagnosed with Major Beta Thalassemia, a condition that will require blood transfusions throughout his life, as well as treatment with chelation agents. The boy has a significantly increased risk of shortened life span, growth impairment and deterioration of vital organs.

He presently undergoes a full blood transfusion every three to four weeks and undergoes daily chelation treatment.

The case settled for $2.8 million.

Type of action: Medical malpractice
Injuries alleged: Need for lifetime blood transfusions and chelation treatment, developmental impairment
Date: April 2009
Submitted by: Max Borten and Sidney Gorovitz, Gorovitz & Borten, Waltham (for the patient)