Abstract:
:We studied 15 Sicilian subjects with Hb H disease correlating clinical examinations with hematological and molecular data. Seven different alpha-tha1 mutations were identified: four deletion types (--MED --CAL, -alpha3.7, -alpha4.2) and three nondeletion types (alpha(Ncol)alpha, alpha(Hph)alpha, alphaCSalpha). All the patients had a zero-gene chromosome (--MED or --CAL), while the third alpha gene was deleted (-alpha3.7, -alpha4.2) or inactive (alpha(Ncol)alpha, alpha(Hph)alpha, alphaCSalpha). In patients with the nondeletion genotype the analysis of hematological values revealed lower levels of RBC and Hb A2 and significantly higher levels of Hb H. The clinical variability was remarkable, ranging from totally asymptomatic conditions, casually diagnosed, to severe thalassemia intermedia with marked hemolytic crises, liver and spleen enlargement and the necessity for frequent transfusions. The genotype did not justify the gravity of the phenotype in every case, and the differences in clinical manifestations, also notable, are not easily explainable in subjects who apparently have the same genotype.
journal_name
Eur J Haematoljournal_title
European journal of haematologyauthors
Mirabile E,Samperi P,Di Cataldo A,Poli A,La Spina M,Schilirò Gdoi
10.1034/j.1600-0609.2000.065005306.xsubject
Has Abstractpub_date
2000-11-01 00:00:00pages
306-9issue
5eissn
0902-4441issn
1600-0609journal_volume
65pub_type
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journal_title:European journal of haematology
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journal_title:European journal of haematology
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更新日期:2013-12-01 00:00:00
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