Search PubMed⌕ Search

Biomedical subjects

B Ringelhann

Publications and source records attributed to B Ringelhann.

At least 19 recordsLinked to original sources
PubMed1993

Molecular characterization of beta-thalassemia in Hungary.

We have identified seven different beta-thalassemia mutations and one delta beta-thalassemia determinant (the Sicilian type) in 32 members of 17 Hungarian families. The most common mutation is the IVS-I-1 (G-->A) change; its high frequency is comparable to that observed in neighboring Czechoslovakia. Additional mutations are of Mediterranean origin. One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected for a beta zero-thalassemia heterozygosity.

Amino Acid Sequence↗
PubMed1982

[Not Available].

Explore the source record for details and available documents.

History, Ancient↗
PubMed1979

Hemoglobin Lepore Washington and hemochromatosis in a Hungarian patient.

A Hungarian family with four heterozygotes for Hb Lepore Washington is described. One, a 43-year-old male, had high levels of serum iron, saturated iron-binding capacity, and ferritin, and normal levels of folic acid and vitamin B12. Liver biopsy showed slight cirrhosis and marked iron deposition in parenchymal cells and in cells of the reticuloendothelial system. Heavy iron deposition was also found in the bone marrow. The patient is not an alcoholic and has no disease that requires blood transfusion. The hemochromatosis thus seems to be of idiopathic nature.

Adolescent↗