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Pathological Case of the Month

David S. Mehr, MD; James T. Rector, MD; Kim-Yen Ngo, PhD
Arch Pediatr Adolesc Med. 1994;148(12):1313-1314. doi:10.1001/archpedi.1994.02170120075014.
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A 2 1-YEAR-OLD, gravida 1, para 0, Malaysian female presented for prenatal examination at 18 weeks' gestation. The pregnancy was complicated by hypertension secondary to Takayasu's arteritis (renal artery stenosis). Ultrasound examination revealed prominent abdominal ascites (Figure 1). A diagnostic procedure was performed and the young woman's parents elected therapeutic termination of the pregnancy. A non-viable fetus was delivered (Figure 2). The hemoglobin electrophoresis of fetal blood obtained at autopsy is shown in Figure 3, a smear of the peripheral blood is shown in Figure 4, and DNA analysis of fetal squamous cells from amniocentesis is shown in Figure 5.

Diagnosis and Discussion 

Hydrops Fetalis Secondary to Homozygous α-Thalassemia-1 (Bart's Hemoglobinopathy)  Bart'shemoglobinopathy results from deletion of all four α-globingenes and no production of α-globinchains.1-3 Complete absence of α-globin chains is incompatible with life. These infants die in utero or shortly after birth (often within hours); gestation usually lasts about 30 to 40 weeks.2 On delivery, the


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