1/5. Altered erythropoiesis and increased hemolysis in hemoglobin m Akita (M Hyde Park beta92 His replaced by Tyr) disease.Hb M Akita disease is a cyanotic hemoglobinopathy found in Akita Prefecture, japan. The abnormal hemoglobin was found to be the same as Hb M Hyde Park (beta92 His replaced by Tyr) by chemical analysis in 1967. In this disease signs of accelerated hemolysis (serum bilirubin, 2.4 mg/dl; splenomegaly, 2 finger breadths; Hb, 10.7 g/dl; reticulocyte index, 2.7) were noted, but the causes of its slight anemia were revealed to be fairly complex by ferrokinetic study, RBC life-span measurement, and 99mTc myeloscintigram. The anemia in this disease is caused not only by shortened erythrocyte survival (T 1/2 = 11.5 days by 51Cr-tagging method) and sequestration of red cells in the spleen (spleen: liver ratio = 2.5 approximately 3.0 by 51Cr-surface counting), but also by slow supply of erythrocytes to the peripheral blood from the bone marrow, presumably, related to the existence of unstable Hb M Akita and its derivative (Hb Akita) in the erythroid cells. Both Carrell's isopropanol test and Heinz body formation test were positive. In spite of maximally increased total erythropoiesis (8 times as high as the normal level; M:E ratio = 0.22:1.0), supply of red cells from the bone marrow to the peripheral blood was significantly decreased. The distribution of hematopoietic sites throughout the body was reasonably uniform.- - - - - - - - - - ranking = 1keywords = body (Clic here for more details about this article) |
2/5. Assessment of fetal-maternal haemorrhage in mothers with hereditary persistence of fetal haemoglobin.Kleihauer examination of peripheral blood cannot be used reliably to detect transplacental fetal-maternal haemorrhage in mothers with hereditary persistence of fetal haemoglobin (HPFH). In Rh(D) negative pregnancies diagnostic confusion with a large fetal-maternal haemorrhage could result in the administration of inappropriately excessive amounts of anti-D immunoglobulin, and the inability to diagnose and quantify transplacental haemorrhage in maternal HPFH by current methods could result in insufficient anti-D administration and subsequent Rh(D) sensitisation. Accordingly, a method to detect and quantify fetal-Rh(D) positive maternal haemorrhage using erythrocyte fluorescent immunocytometry was developed. An indirect immunofluorescence method with IgG anti-D immunoglobulin as the primary antibody was used, combined with quantitative analysis on a fluorescence activated cell sorter. The method was accurate, specific, and sensitive and could detect a contaminating population of 0.1% Rh(D) positive cells in Rh(D) negative blood--a level of fetal-maternal haemorrhage well covered by a single dose of 500 IU of anti-D immunoglobulin.- - - - - - - - - - ranking = 0.5keywords = body (Clic here for more details about this article) |
3/5. Hb Volga [beta 27(B9)Ala-->Asp]: detection of a de novo mutation by Ava II digestion of PCR-amplified dna.Hb Volga was observed as a de novo mutation in a 5-year-old boy from Tuzla, Bosnia and Hercegovina, who exhibited severe Heinz body hemolytic anemia. The variant was detected and quantitated at 10.6% by a reversed phase high performance liquid chromatography (HPLC) procedure. Structural characterization was done by HPLC analysis. An easier approach for the detection of Hb Volga by Ava II digestion of polymerase chain reaction-amplified dna is described.- - - - - - - - - - ranking = 0.5keywords = body (Clic here for more details about this article) |
4/5. 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.- - - - - - - - - - ranking = 0.5keywords = body (Clic here for more details about this article) |
5/5. Splenic abscess. Report of 10 cases and review of the literature.Ten cases of splenic abscess seen between 1964 and 1974 are reviewed. pain referable to the abscess was the most common symptom, but was present in only five cases. fever was present in all but one case. Tenderness in the region of the spleen was noted in six cases, in three cases the spleen was palpable and in one case a large mass in the upper left quadrant of the abdomen was palpated. Abdominal films were suggestive of the diagnosis in two cases, and the liver-spleen scan demonstrated a defect in three cases. Seven abscesses were caused by gram-negative bacilli of bowel origin; the etiologic agents in the other three were staphylococcus aureus, streptobacillus moniliformis and a nocardia species. Associated conditions predisposing to splenic abscess included trauma in three cases, splenic arteritis or embolization in five cases, and foci of infection elsewhere in the body in six, including two cases of endocarditis. The mortality was 60 per cent. Half of the deaths were due to the underlying illness, but failure to diagnose splenic abscess contributed to a fatal outcome in three cases.- - - - - - - - - - ranking = 0.5keywords = body (Clic here for more details about this article) |