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A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.
MedLine Citation:
PMID:  23206178     Owner:  NLM     Status:  Publisher    
OBJECTIVE: The epsilon gamma delta beta (εγδβ) thalassemias are rare sporadic disorders caused by deletion of the β-globin gene cluster. The main clinical feature is marked prenatal and neonatal anemia that resolves spontaneously within a few months. Reports originating mainly from Europe have so far identified 30 such deletions The aim of the present work was to describe a novel 1.78Mb deletion, the longest ever reported, and to detail the clinical features in 12 members of an extended Bedouin family. METHODS: The deletion was identified by globin gene multiplex ligation-dependent probe amplification (MLPA) of the β-globin cluster and further characterized by comparative genomic hybridization. Past and present clinical and laboratory data of 10 symptomatic and 2 asymptomatic patients were collected. RESULTS: A 1.78 Mb εγδβ deletions the largest ever described was identified in all patients. Although other genes were included in the deletion, no other symptoms were observed. Of the 10 symptomatic fetuses and neonates, 3 died of the disease. The remainder required packed cell transfusions during the first months of life. Pregnancy complications included intrauterine growth restriction and oligohydramnios, as well as, additional neonatal complications including prematurity and persistent pulmonary hypertension of the neonate CONCLUSIONS: We suggest that εγδβ thalassemia be added to the list of hemoglobinopathies that can cause neonatal anemia and that MLPA of the β-globin cluster be used to confirm its diagnosis. Careful surveillance during pregnancy is important to reduce neonatal mortality and morbidity, especially given the dramatic improvement that occurs later. © 2012 John Wiley & Sons A/S.
Hanna Shalev; Daniela Landau; Serge Pissard; Tanya Krasnov; Joseph Kapelushnik; Oded Gilad; Arnon Broides; Orly Dgany; Hannah Tamary
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-12-3
Journal Detail:
Title:  European journal of haematology     Volume:  -     ISSN:  1600-0609     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Pediatric Division, Soroka University Medical Center, Beer Sheva, Israel.
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