Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.

A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which have also been found in Mediterranean, East Asian, and Black populations; the possibility of independent mutations for some of the rare alleles should be considered. Hb Durham-N.

Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA.

We have identified a valine-->methionine mutation at position 67 of the beta chain in the hemoglobin of a young Russian patient with severe hemolytic disease, anemia, splenomegaly, Heinz body formation, and continued requirement for blood transfusions despite an early splenectomy. Sequencing of amplified DNA readily identified a GTG-->ATG mutation at codon 67. The introduction of the larger methionine residue into the heme pocket, and the loss of the bonds between valine at beta 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.

The diagnostic significance of serum ferritin indices in patients with malignant and reactive histiocytosis.

Iron metabolism was studied in 10 patients with malignant histiocytosis (MH), in 16 patients with histiocytosis-X (Langerhans cell histiocytosis) and in 34 patients with reactive proliferation of the mononuclear phagocytes (MPS). Eight MH patients had a considerably increased level of serum ferritin (SF). The average level of SF was 6070 +/- 957 mg/l for MH patients, which is significantly greater than the SF level for HX and RH patients.

Expression of human membrane proteins 4.1a and 4.1b in reticulocytes and mature erythrocytes.

The erythrocyte membrane protein of band 4.1 is an essential protein of the erythrocyte cytoskeleton. Two isoforms have been detected in human erythrocytes, and six in nucleated avian erythrocytes.

A new hemoglobin variant: Hb Dagestan alpha 60(E9) Lys leads to Glu.

An electrophoretically I-like hemoglobin variant was detected during a survey for abnormal hemoglobins in Dagestan (USSR). Neither clinical nor hematological abnormalities were seen in the carrier for this mutant hemoglobin. Structural studies demonstrated a previously undescribed substitution of alpha 60 (E9) Lys leads to Glu.