Alpha-thalassemia major presenting in a term neonate without hydrops.
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.
Monaco
Sara E
SE
Department of Pathology, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA.
Davis
Mary
M
Huang
Ay-chyn
AC
Bhagat
Govind
G
Baergen
Rebecca N
RN
Lorenz
John M
JM
Chung
Wendy K
WK
Thaker
Harshwardhan M
HM
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D015160:Hydrops Fetalis / Q000473:pathology*; D006976:Hypertension, Pulmonary / Q000209:etiology; D000860:Hypoxia / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D017085:alpha-Thalassemia / Q000473:pathology* / Q000503:physiopathology*