Document Detail

Secondary erythrocytosis due to compound homozygosity, but not compound heterozygosity, for Hb Luton and α-thalassemia: A family study.
MedLine Citation:
PMID:  22217338     Owner:  NLM     Status:  Publisher    
We describe the hematological and clinical features of homozygous Hb Luton (OMIM 141800.0172), a high affinity α-globin variant that has not been previously described in the homozygous state. The proband was found to have a high hemoglobin (Hb) concentration following a routine blood count prior to a planned appendectomy at the age of 16 years. Investigation showed that she was homozygous for both Hb Luton [α89(FG1)His→Leu (CAC>CTC), a high oxygen affinity Hb)] and homozygous for α(+)-thalassemia (α(+)-thal), while her mother, maternal aunt and half-brother were heterozygous for these conditions. Further investigation showed that she also had Gilbert's disease and Raynaud's syndrome. As far as we are aware, this is also the first reported family with a subject homozygous for both Hb Luton and α-thal so that the proband has no nomal α-globin. The parents of the proband are first cousins and originate from Pakistan.
Dima El-Sharkawi; Chris Fisher; Sachin Khambadkone; Adrian D Stephens; John B Porter
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-4
Journal Detail:
Title:  Hemoglobin     Volume:  -     ISSN:  1532-432X     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-5     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Haematology, University College London , London , UK.
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