Hemoglobin s-hemoglobin city of hope compound heterozygote with a subsaharan genetic background and severe bone marrow hypoplasia. Report as inadecuate




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Neida González ; Alba Hernández ; Sergio Arias ;Investigación Clínica 2010, 51 3

Author: Irene Paradisi

Source: http://www.redalyc.org/articulo.oa?id=372937681010


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Investigación Clínica ISSN: 0535-5133 riclinicas@gmail.com Universidad del Zulia Venezuela Paradisi, Irene; González, Neida; Hernández, Alba; Arias, Sergio Hemoglobin S-hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia. Investigación Clínica, vol.
51, núm.
3, 2010, pp.
403-414 Universidad del Zulia Maracaibo, Venezuela Available in: http:--www.redalyc.org-articulo.oa?id=372937681010 How to cite Complete issue More information about this article Journals homepage in redalyc.org Scientific Information System Network of Scientific Journals from Latin America, the Caribbean, Spain and Portugal Non-profit academic project, developed under the open access initiative Invest Clin 51(3): 403 - 414, 2010 Hemoglobin S-hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia. Irene Paradisi, Neida González, Alba Hernández and Sergio Arias. Laboratorio de Genética Humana, Instituto Venezolano de Investigaciones Científicas (IVIC).
Caracas, Venezuela. 1 Key words: hemoglobin S, hemoglobin City of Hope, immune deficiency, sickling anemic phenotype, African haplotypes, parvovirus B19. Abstract.
Hemoglobin City of Hope (Hb CH) (HBB: c.208G A, beta 69 (E13)Gly Ser) is a rare, anomalous change.
Seven independent carriers reported so far, had not displayed any hematological manifestations.
The ethnic origin of the known instances is presumably heterogeneous, although they are mainly Mediterraneans or equatorial West Africans.
We describe the case of a compound heterozygote in trans for Hb S (Glu6Val) and Hb City of Hope (Gly69Ser) in an anemic two year-old boy with a severe immune-deficient phenotype and fatal chronic parvovirus B19 infection.
Haplotype with the Hb S was Bantu; while it was a mixed atypical Benin-Cameroon for Hb CH.
Remote ancestral origin of the City of Hope mutation in this family seems to be SubSaharan African.
The compo...





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