Document Detail

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.
MedLine Citation:
PMID:  16231329     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The thalassemias are an inherited group of heterogeneous anemias in which one or more of the globin chains in the hemoglobin tetramer are absent. Fetuses with homozygous alpha-thalassemia, which is particularly prevalent in people of Southeast Asian extraction, experience deficient alpha-globin chain synthesis and cannot produce hemoglobin F (the primary fetal hemoglobin after 8 weeks' gestation). Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia. METHODS AND RESULTS: Here we report on two fetuses with homozygous alpha-thalassemia who displayed structural defects of a vascular disruptive type. Both fetuses demonstrated limb anomalies, including terminal transverse limb deficiencies, and one fetus was found to have a brain malformation consisting of a neuronal migrational defect. The limb anomalies and suspected brain malformation were detected on prenatal ultrasound prior to confirmation of the diagnosis of alpha-thalassemia in one case; in the other case prenatal records were not available. While microcephaly, hydrocephalus, and retarded brain growth have been rarely reported in association with homozygous alpha-thalassemia, this is the first report of a true brain malformation in an affected fetus. Limb anomalies, on the other hand, appear to be more frequent. Recently, aggressive in utero and postnatal therapies for homozygous alpha-thalassemia have been attempted with some success. CONCLUSIONS: Our cases and those from the medical literature suggest that couples need to be counseled about the risks of congenital anomalies of a vascular disruptive type in affected fetuses. Furthermore, data from the literature suggests that in utero therapy may not significantly decrease these risks as such anomalies may be present prior to the institution of therapy. In addition, in hydropic infants with vascular disruptive defects, especially in those of Southeast Asian origin, homozygous alpha-thalassemia should be suspected as a likely etiology.
Margaret P Adam; Jane Chueh; Yasser Y El-Sayed; Ana Stenzel; Hannes Vogel; David D Weaver; H Eugene Hoyme
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  25     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2005 Dec 
Date Detail:
Created Date:  2005-12-05     Completed Date:  2007-01-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1088-96     Citation Subset:  IM    
Copyright Information:
Copyright 2005 John Wiley & Sons, Ltd
Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA.
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MeSH Terms
Brain / abnormalities*,  embryology
Fetus / blood supply*
Gestational Age
Hydrops Fetalis / etiology,  genetics,  pathology
Limb Deformities, Congenital / embryology,  genetics*,  ultrasonography
Prenatal Diagnosis
Ultrasonography, Prenatal
alpha-Thalassemia / complications,  diagnosis*,  genetics

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