1. Alpha-Thalassemia Major Presenting in a Term Neonate without Hydrops
- Author
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Govind Bhagat, Sara E. Monaco, Wendy K. Chung, Ay-chyn Huang, Harshwardhan M. Thaker, John M. Lorenz, Rebecca N. Baergen, and Mary Davis
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Hemoglobin electrophoresis ,Hydrops Fetalis ,Hypertension, Pulmonary ,Thalassemia ,Alpha-thalassemia ,Hemoglobin Barts ,Pathology and Forensic Medicine ,Diagnosis, Differential ,03 medical and health sciences ,Fatal Outcome ,0302 clinical medicine ,alpha-Thalassemia ,Hydrops fetalis ,Humans ,Medicine ,Hypoxia ,030219 obstetrics & reproductive medicine ,business.industry ,Infant, Newborn ,General Medicine ,Hypoxia (medical) ,medicine.disease ,Pulmonary hypertension ,Surgery ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,medicine.symptom ,Differential diagnosis ,business - Abstract
We describe the clinical and pathologic features of an unusual case of alpha-thalassemia major in a patient who survived to term and lived for 9 days. The neonate was nonhydropic and the clinical picture was dominated by severe hypoxia with pulmonary hypertension. The diagnosis was not suspected until postnatal examination of the blood smear, which prompted the performance of hemoglobin electrophoresis and subsequent molecular confirmation. This case illustrates that alpha-thalassemia major should be in the differential diagnosis of hypoxic neonates even in the absence of hydrops.
- Published
- 2005
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