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Blood Sep 1993We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b...
We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b abnormality in the mother and in the children. The change was more conspicuous in the children than in the mother. The father carried the alpha V/41 allele, which is a common allele endowed with low expression. The alpha V/41 allele was also present in the children accounting for the much more severe expression of the alpha I/50-46b variant. The responsible mutation yielding the latter appeared to be the alpha 469 His-->Pro substitution (CAT-->CCT), which is a novel abnormality. The corresponding spectrin was designated spectrin Barcelona. As is often the case in hereditary elliptocytosis or poikilocytosis related to alpha-spectrin variants, the change involved a helix 3; namely, helix 3 of repeating segment alpha 5.
Topics: Alleles; Base Sequence; Child; Child, Preschool; Elliptocytosis, Hereditary; Exons; Family Health; Female; Heterozygote; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Spain; Spectrin
PubMed: 8364215
DOI: No ID Found -
Annales de Biologie Clinique 2007We report the case of a 59 year old man presenting a regenerative microcytic hypochromic anaemia. The investigations revealed the presence of haemoglobin H, suggesting...
We report the case of a 59 year old man presenting a regenerative microcytic hypochromic anaemia. The investigations revealed the presence of haemoglobin H, suggesting abnormalities in the alpha-globin chains synthesis. Alpha-thalassemia was thus suspected. The patient had no personal or familial history. The association with aniso-poïkilocytosis and a marked iron overload (ferritinemia > 1,500 microg/L) suggested a myelodysplastic syndrome, which was confirmed with a bone marrow aspiration. The pattern was consistent with the Acquired alpha-Thalassemia-Myelodysplastic Syndrome (ATMDS). About a hundred cases are listed worldwidely and collected in an international registry. The causes of ATMDS are ignored, but recent reports indicate that the ATRX gene may be implicated in the pathogenesis. ATRX is a chromatin-associated protein, involved in the transcription of several genes. The alpha globin genes could be one of the targets of the ATRX protein.
Topics: Anemia, Refractory; Erythrocytes; Hemochromatosis; Humans; Male; Middle Aged; Myelodysplastic Syndromes; alpha-Thalassemia
PubMed: 17627922
DOI: No ID Found