Biomedical subjects

H C Zeitlin

Publications and source records attributed to H C Zeitlin.

3 recordsLinked to original sources

PubMed1990

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap. Surprisingly, detailed molecular analysis of the alpha globin complex is normal in these subjects. Clinically, they present with a rather uniform constellation of abnormalities, notably severe mental handicap, microcephaly, relative hypertelorism, unusual facies and genital anomalies. Hematologically, their Hb H disease has subtly but distinctly milder properties than the recognized Mendelian forms of the disease. These common features suggest that these five "nondeletion" patients have a similar underlying mutation, quite distinct from the 16p13.3 deletion associated with alpha thalassemia and mild to moderate mental retardation described in the accompanying paper. We speculate that the locus of this underlying mutation is not closely linked to the alpha globin complex and may encode a trans-acting factor involved in the normal regulation of alpha globin expression.

Adolescent↗

PubMed1985

Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin.

A case of transcobalamin II (TCII) deficiency in which a total absence of TCII was demonstrated both functionally and immunologically is reported. Unlike previously described patients, this child has been maintained on oral hydroxocobalamin, 2 mg daily, without any parenteral supplementation for the last five years. At the age of six years her development is normal and her health is good. Plasma cobalamin levels are in the range of 3,000 ng/L and most of this appears to be bound to a molecule, which on gel filtration, elutes with albumin. In an extended family study, a clear separation of heterozygotes from both the propositus and from normal subjects suggests that the underlying defect in this condition is confined to a single gene.

Administration, Oral↗

PubMed1983

Selective expression within the human alpha globin gene complex following chromosome-dependent transfer into diploid mouse erythroleukaemia cells.

Human chromosome 16, which contains the alpha globin gene complex, has been introduced into mouse erythroleukaemia cells by means of cell fusion and selectively retained to the exclusion of other human chromosomes. After induction of haemoglobin synthesis in hybrid clones, evidence for expression of the human alpha globin genes was sought by mRNA and globin chain synthesis analyses. It was found that both the human alpha 1 and alpha 2 genes were similarly expressed and that the synthesis of human alpha globin chains was nearly half that of mouse alpha chains on a per gene basis. The pattern of human alpha gene expression was similar with different inducers and with donor chromosomes of either erythroid or non-erythroid origin. However, the closely linked human embryonic alpha gene (zeta) did not produce detectable levels of zeta globin mRNA in any of the hybrid clones. Thus, there is selective activation of adult genes in the human alpha globin gene complex in the mouse erythroleukaemia cell.

Animals↗