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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.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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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  -Thalassemia-1 (Bart's Hemoglobinopathy)
Bart'shemoglobinopathy results from deletion of all four -globingenes and no production of -globinchains.1-3 Complete absence of -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
. . . [Full Text PDF of this Article]
Author Affiliations
From the Departments of Internal Medicine (Dr Mehr), Laboratory (Dr Rector) and Clinical Investigation (Dr Mehr), US Naval Medical Center, San Diego, Calif, and Department of Medicine, University of California–San Diego (Dr Ngo). The views expressed in this article are those of the authors and do not reflect the official policy or position of the Department of the Navy, Department of Defense, or the US government.
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