Document Detail


Hb Hammersmith [beta 42(CD1) Phe-->Ser]: occurrence as a de novo mutation in black monozygotic twins with multiple congenital anomalies.
MedLine Citation:
PMID:  9856680     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To present the occurrence of Hb Hammersmith as a de novo mutation in African-American twins with multiple congenital anomalies.
METHODS: Standard hematologic methods were used. The presence of an unstable Hb variant was confirmed by brilliant cresyl blue staining and an isopropanol stability test. Hb Hammersmith was confirmed by the sequencing of polymerase chain reaction-amplified beta-globin gene.
RESULTS: The presence of Hb Hammersmith was confirmed in female monozygotic twins of African-American origin with congenital Heinz body hemolytic anemia and multiple congenital anomalies. The variant occurred as a de novo mutation in the twins.
CONCLUSION: This report describes the occurrence of Hb Hammersmith [B42(CD1)Phe-->Ser] in African-American twins. As with the other reported cases, both twins were female. In addition to Heinz body hemolytic anemia, a low arterial O2 saturation in the proposita was shown by pulse oximetry. Multiple congenital anomalies involving various systems were also found in both twins.
Authors:
A M Tuohy; V C McKie; H Sabio; F Kutlar; A Kutlar; J B Wilson
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  20     ISSN:  1077-4114     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:    1998 Nov-Dec
Date Detail:
Created Date:  1998-12-18     Completed Date:  1998-12-18     Revised Date:  2011-10-06    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  563-6     Citation Subset:  IM    
Affiliation:
Department of Pediatric Hematology/Oncology, Medical College of Georgia, Augusta 30912, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / blood*,  genetics
Anemia, Hemolytic / complications
Diseases in Twins / genetics
Female
Globins / genetics
Heinz Bodies / ultrastructure
Hemoglobins, Abnormal / analysis*
Humans
Infant
Twins, Monozygotic*
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 37359-23-2/hemoglobin Hammersmith; 9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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