Alpha-thalassemia major presenting in a term neonate without hydrops

Sara E. Monaco, Mary Davis, Ay Chyn Huang, Govind Bhagat, Rebecca N. Baergen, John M. Lorenz, Wendy K. Chung, Harshwardhan Thaker

Research output: Contribution to journalArticle

7 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)706-709
Number of pages4
JournalPediatric and Developmental Pathology
Volume8
Issue number6
DOIs
StatePublished - Dec 1 2005
Externally publishedYes

Fingerprint

alpha-Thalassemia
beta-Thalassemia
Edema
Newborn Infant
Pulmonary Hypertension
Electrophoresis
Hemoglobins
Differential Diagnosis
Hypoxia

Keywords

  • Alpha-thalassemia major
  • Hemoglobin Bart
  • Hydrops fetalis
  • Thalassemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

Cite this

Monaco, S. E., Davis, M., Huang, A. C., Bhagat, G., Baergen, R. N., Lorenz, J. M., ... Thaker, H. (2005). Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatric and Developmental Pathology, 8(6), 706-709. https://doi.org/10.1007/s10024-005-0063-2

Alpha-thalassemia major presenting in a term neonate without hydrops. / Monaco, Sara E.; Davis, Mary; Huang, Ay Chyn; Bhagat, Govind; Baergen, Rebecca N.; Lorenz, John M.; Chung, Wendy K.; Thaker, Harshwardhan.

In: Pediatric and Developmental Pathology, Vol. 8, No. 6, 01.12.2005, p. 706-709.

Research output: Contribution to journalArticle

Monaco, SE, Davis, M, Huang, AC, Bhagat, G, Baergen, RN, Lorenz, JM, Chung, WK & Thaker, H 2005, 'Alpha-thalassemia major presenting in a term neonate without hydrops', Pediatric and Developmental Pathology, vol. 8, no. 6, pp. 706-709. https://doi.org/10.1007/s10024-005-0063-2
Monaco SE, Davis M, Huang AC, Bhagat G, Baergen RN, Lorenz JM et al. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatric and Developmental Pathology. 2005 Dec 1;8(6):706-709. https://doi.org/10.1007/s10024-005-0063-2
Monaco, Sara E. ; Davis, Mary ; Huang, Ay Chyn ; Bhagat, Govind ; Baergen, Rebecca N. ; Lorenz, John M. ; Chung, Wendy K. ; Thaker, Harshwardhan. / Alpha-thalassemia major presenting in a term neonate without hydrops. In: Pediatric and Developmental Pathology. 2005 ; Vol. 8, No. 6. pp. 706-709.
@article{4a6d308852e445adb185f7c7cbec8742,
title = "Alpha-thalassemia major presenting in a term neonate without hydrops",
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.",
keywords = "Alpha-thalassemia major, Hemoglobin Bart, Hydrops fetalis, Thalassemia",
author = "Monaco, {Sara E.} and Mary Davis and Huang, {Ay Chyn} and Govind Bhagat and Baergen, {Rebecca N.} and Lorenz, {John M.} and Chung, {Wendy K.} and Harshwardhan Thaker",
year = "2005",
month = "12",
day = "1",
doi = "10.1007/s10024-005-0063-2",
language = "English (US)",
volume = "8",
pages = "706--709",
journal = "Pediatric and Developmental Pathology",
issn = "1093-5266",
publisher = "Society for Pediatric Pathology",
number = "6",

}

TY - JOUR

T1 - Alpha-thalassemia major presenting in a term neonate without hydrops

AU - Monaco, Sara E.

AU - Davis, Mary

AU - Huang, Ay Chyn

AU - Bhagat, Govind

AU - Baergen, Rebecca N.

AU - Lorenz, John M.

AU - Chung, Wendy K.

AU - Thaker, Harshwardhan

PY - 2005/12/1

Y1 - 2005/12/1

N2 - 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.

AB - 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.

KW - Alpha-thalassemia major

KW - Hemoglobin Bart

KW - Hydrops fetalis

KW - Thalassemia

UR - http://www.scopus.com/inward/record.url?scp=29244477849&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=29244477849&partnerID=8YFLogxK

U2 - 10.1007/s10024-005-0063-2

DO - 10.1007/s10024-005-0063-2

M3 - Article

VL - 8

SP - 706

EP - 709

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

SN - 1093-5266

IS - 6

ER -