Alpha-Thalassemia Major Presenting in a Term Neonate without Hydrops

SAGE Publications - Tập 8 - Trang 706-709 - 2005
Sara E. Monaco1, Mary Davis1, Ay-chyn Huang1, Govind Bhagat1, Rebecca N. Baergen2, John M. Lorenz3, Wendy K. Chung3, Harshwardhan M. Thaker1
1Department of Pathology, Columbia University Medical Center, New York, USA
2Department of Pathology, Weill Medical College of Cornell University, New York, USA
3Department of Pediatrics, Columbia University Medical Center, New York, USA

Tóm tắt

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.

Tài liệu tham khảo

Weatherall DJ, Clegg JB. The Thalassemia Syndromes, 4th ed. Malden, MA: Blackwell Science, 2001 Weatherall DJ, Clegg JB, Boon WH. The haemoglobin constitution of infants with the haemoglobin Bart’s hydrops foetalis syndrome. Br J Haematol 1970;18:357–367 Lie-Injo LE, Jo BH. A fast moving haemoglobin in hydrops foetalis. Nature 1960;185:698 Lie-Injo LE, Lopez CG, Dutt AK. Pathological findings in hydrops foetalis due to alpha-thalassemia: a review of 32 cases. Trans R Soc Trop Med Hyg 1968;62:874–879 Lie-Injo LE. Hydrops foetalis and abnormal haemoglobins. J Obstet Gynaecol 1962;69:288–292 Lucarelli G, Andreani M, Angelucci E. The cure of thalassemia by bone marrow transplantation. Blood Rev 2002;16:81–85 Singer ST, Styles L, Bojanowski J. Changing outcome of homozygous alpha-thalassemia: cautious optimism. J Pediatr Hematol Oncol 2000;22:539–542 Chui DHK, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood 1998;91:2213–2222 Lian ST, Wong VCW, So WWK, Ma HK, Chan V, Todd D. Homozygous alpha-thalassemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 1985;92:680–684 Chan K, Wong MS, Chan TK, Chan V. A thalassaemia array for Southeast Asia. Br J Haematol 2004;124:232–239 Leung TN, Lau TK, Chung TKH. Thalassemia screening in pregnancy. Curr Opin Obstet Gynecol 2005;17:129–134
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SAGE Publications

Tập 8

706-709

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