Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore)

Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS). In the Japanese type of protein 4.2 deficiency (protein 4.2Nippon), the anemia is associated with a point mutation in the protein 4.2 cDNA. In this report, we describe a patient with moderate and apparently episodic nonimmune hemolytic anemia with splenomegaly, spherocytosis, osmotically fragile RBCs, reduced whole cell deformability, and abnormally dense cells. Sodium dodecyl sulfate- polyacrylamide gel electrophoresis analysis of the proposita's RBC membrane proteins showed an 88% deficiency of protein 4.2 and a 30% deficiency of glyceraldehyde-3-phosphate dehydrogenase (band 6). Structural and molecular analyses of the proposita's protein 4.2 were normal. In contrast, limited tryptic digestion of the proposita's band 3 showed a homozygous abnormality in the cytoplasmic domain. Analysis of the pedigree disclosed six members who were heterozygotes for the band 3 structural abnormality and one member who was a normal homozygote. Direct sequence analysis of the abnormal band 3 tryptic peptide suggested that the structural abnormality resided at or near residue 40. Sequence analysis of the proposita's band 3 cDNA showed a 232G-->A mutation resulting in a 40glutamic acid-->lysine substitution (band 3Montefiore). Allele-specific oligonucleotide hybridization was used to probe for the mutation in the pedigree, showing that the proposita was homozygous, and the pedigree members who were heterozygous for the band 3 structural abnormality were also heterozygous for the band 3Montefiore mutation. The band 3Montefiore mutation was absent in 26 chromosomes from race-matched controls and in one pedigree member who did not express the band 3 structural abnormality. In coincidence with splenectomy, the proposita's anemia was largely corrected along with the disappearance of most spherocytes and considerable improvements of RBC osmotic fragility, whole cell deformability, and cell density. We conclude that this hereditary hemolytic anemia is associated with the homozygous state for band 3Montefiore (40glutamic acid-->lysine) and a decreased RBC membrane content of protein 4.2. We speculate that band 3 structural abnormalities can result in defective interactions with protein 4.2 and band 6, and in particular, that the region of band 3 containing 40glutamic acid is involved directly or indirectly in interactions with these proteins.     

Rocky Mountain spotted fever

Rocky Mountain spotted fever (RMSF) is an unusual but important dermatological condition to identify without hesitation. The classic triad of headache, fever, and a rash that begins on the extremities and travels proximally to involve the trunk is found in a majority of patients. The cutaneous centripetal pattern is a result of cell to cell migration by the causative organism Rickettsia rickettsii. Such individuals should receive prompt antimicrobial therapy and supportive care to avoid serious and potentially fatal complications.     

Severe outcomes of allogeneic and autologous blood donation: frequency and characterization

BACKGROUND: There are few published data on severe outcomes of the donation of blood for allogeneic or autologous use. It would be helpful if blood collectors could better characterize and/or predict the likelihood of significant complications of blood donation. STUDY DESIGN AND METHODS: Very severe outcome (VSO) was defined as an event requiring hospitalization. Approximately 4.1 million American Red Cross whole-blood donation records (July 1993-March 1994) were reviewed for the incidence and type of VSO. RESULTS: A total of 33 VSOs occurred for all donations. The incidence of VSOs for allogeneic donation was 1 (0.0005%) in 198,119 and that for autologous donation was 1 (0.006%) in 16,783 (p < 0.001). First-time donors were three times as likely to have a VSO. Donors > 40 years old had 87.9 percent of the VSOs, and donors > 60 years old had 48.5 percent. Vasovagal (66.7%) and anginal (12.1%) episodes were the most frequent complications, and 66.7 percent of reactions occurred at the blood collection site. The mean hospital stay was 1.9 days. CONCLUSION: VSO is an infrequent complication of all types of blood donation, but its occurrence may be associated with significant morbidity and cost. VSO is nearly 12 times as likely in autologous blood donors.     

The influence of a hydrogen peroxide and glycerol containing mouthrinse on plaque accumulation: a 3-day non-brushing model

Abstract: Aim: To evaluate the inhibition of plaque growth by an experimental mouthrinse (BioXyl^®) based on hydrogen peroxide/glycerol. Design: It was a double‐blind, randomized study involving 40 volunteers in good general health. At the start of the trial, all participants received a dental prophylaxis to remove all plaque deposits. During the next 3 days subjects refrained from any mechanical oral hygiene procedure, except for the allocated mouthrinse being either the hydrogen peroxide (H₂O₂; 0.013% H₂O₂/0.004% glycerol) or the placebo without H₂O₂. At the third day of appointment, plaque levels were assessed at six sites per tooth. Results: The test group had a mean overall plaque score of 2.66 and the placebo group of 2.70. The difference in plaque scores between the two groups was not statistically significant. Conclusions: The results of this pilot study showed that there was no statistically significant difference between the H₂O₂/glycerol group and the placebo group with respect to plaque inhibition within this study design.